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(2, 1, '2018-02-04 15:55:46', '2018-02-04 15:55:46', '
What is a genetic disorder?
\r\n\r\n
A genetic disorder is a condition that is caused by an abnormality in an individual’s DNA. Lots of different disorders are now known to be caused by this, and more are being described all the time.
\r\n\r\n
What are Jewish genetic disorders?
\r\n\r\n
These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does not mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.
\r\n\r\n
Why are certain disorders more common among Jewish people?
\r\n\r\n
Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world.
\r\n\r\n
How many Jewish genetic disorders are there?
\r\n\r\n
The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of Sephardi ancestry and some particularly affect those of Ashkenazi ancestry.
\r\n\r\n
Do all Jewish people have the same likelihood of having these disorders?
\r\n\r\n
Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews.
\r\n\r\n
Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco.
\r\n\r\n
How are these disorders inherited?
\r\n\r\n
Most Jewish genetic disorders are inherited in a recessive way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected.
\r\n\r\n
With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives.
\r\n\r\n
A few of the disorders are inherited in a dominant way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.
A genetic disorder is a condition that is caused by an abnormality in an individual’s DNA. Lots of different disorders are now known to be caused by this, and more are being described all the time.
\n\n
What are Jewish genetic disorders?
\n\n
These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does not mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.
\n\n
Why are certain disorders more common among Jewish people?
\n\n
Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world.
\n\n
How many Jewish genetic disorders are there?
\n\n
The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of Sephardi ancestry and some particularly affect those of Ashkenazi ancestry.
\n\n
Do all Jewish people have the same likelihood of having these disorders?
\n\n
Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews.
\n\n
Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco.
\n\n
How are these disorders inherited?
\n\n
Most Jewish genetic disorders are inherited in a recessive way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected.
\n\n
With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives.
\n\n
A few of the disorders are inherited in a dominant way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.
The majority of these conditions are rare. It is not uncommon, however, for people to be a ‘carrier’ for one or more disorders.
\n\n
It is estimated that everyone of Ashkenazi Jewish ancestry has a 1 in 5 chance of carrying at least one of the main Jewish genetic disorders.
\n\n
\n\n', 'Introduction To Jewish Genetic Disorders', '', 'inherit', 'closed', 'closed', '', '2-autosave-v1', '', '', '2018-02-05 06:02:21', '2018-02-05 06:02:21', '', 2, 'http://mlajnetics.local//?p=7', 0, 'revision', '', 0),
(8, 1, '2018-02-05 05:57:48', '2018-02-05 05:57:48', '', 'subpic-2', '', 'inherit', 'open', 'closed', '', 'subpic-2', '', '', '2018-02-07 13:23:49', '2018-02-07 13:23:49', '', 2, 'http://mlajnetics.local//wp-content/uploads/2018/02/subpic-2.jpg', 0, 'attachment', 'image/jpeg', 0),
(9, 1, '2018-02-05 05:58:00', '2018-02-05 05:58:00', '<div class="col-md-9">\r\n\r\n<img src="http://www.jnetics.org//themes/site_themes/JGDnew/subpic-2.jpg" class="img-responsive" alt="image">\r\n\r\n<h2><br>\r\nIntroduction to Jewish Genetic Disorders</h2>\r\n\r\n<h3>What is a genetic disorder?</h3>\r\n\r\n<p>A genetic disorder is a condition that is caused by an abnormality in an individual’s <a href="http://www.jnetics.org/glossary#DNA">DNA</a>. Lots of different disorders are now known to be caused by this, and more are being described all the time. </p>\r\n\r\n<section id="jewish_genetic_disorders"></section><h3>What are Jewish genetic disorders?</h3>\r\n\r\n<p>These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does <b>not</b> mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.</p>\r\n\r\n<h3>Why are certain disorders more common among Jewish people?</h3>\r\n\r\n<p>Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world. </p>\r\n\r\n<h3>How many Jewish genetic disorders are there?</h3>\r\n\r\n<p>The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of <a href="http://www.jnetics.org/glossary#Sephardi_Jews">Sephardi ancestry</a> and some particularly affect those of <a href="http://www.jnetics.org/glossary#Ashkenazi_Jews">Ashkenazi ancestry</a>. </p>\r\n\r\n<h3>Do all Jewish people have the same likelihood of having these disorders?</h3>\r\n\r\n<p>Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews. </p>\r\n\r\n<p>Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco. </p>\r\n\r\n<h3>How are these disorders inherited?</h3>\r\n\r\n<p>Most Jewish genetic disorders are inherited in a <a href="http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics#recessive">recessive</a> way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected. </p>\r\n\r\n<p>With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives. </p>\r\n\r\n<p>A few of the disorders are inherited in a <a href="http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics#dominant">dominant</a> way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.</p>\r\n\r\n<p>For a more complete explanation about inheritance see <a href="http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics">introduction to genetics</a>.</p>\r\n\r\n<h3>How common are Jewish genetic disorders?</h3>\r\n\r\n<p>The majority of these conditions are rare. It is not uncommon, however, for people to be a <a href="http://www.jnetics.org/glossary#Carrier">‘carrier’</a> for one or more disorders. </p>\r\n\r\n<p><b class="colhigh">It is estimated that everyone of Ashkenazi Jewish ancestry has a 1 in 5 chance of carrying at least one of the main Jewish genetic disorders.</b></p>\r\n\r\n<p> </p>\r\n
\r\n\r\n\r\n\r\n\r\n \r\n\r\n\r\n\r\n\r\n
\r\nIntroduction to Jewish Genetic Disorders
\r\n\r\n
What is a genetic disorder?
\r\n\r\n
A genetic disorder is a condition that is caused by an abnormality in an individual’s DNA. Lots of different disorders are now known to be caused by this, and more are being described all the time.
\r\n\r\n
What are Jewish genetic disorders?
\r\n\r\n
These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does not mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.
\r\n\r\n
Why are certain disorders more common among Jewish people?
\r\n\r\n
Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world.
\r\n\r\n
How many Jewish genetic disorders are there?
\r\n\r\n
The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of Sephardi ancestry and some particularly affect those of Ashkenazi ancestry.
\r\n\r\n
Do all Jewish people have the same likelihood of having these disorders?
\r\n\r\n
Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews.
\r\n\r\n
Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco.
\r\n\r\n
How are these disorders inherited?
\r\n\r\n
Most Jewish genetic disorders are inherited in a recessive way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected.
\r\n\r\n
With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives.
\r\n\r\n
A few of the disorders are inherited in a dominant way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.
The majority of these conditions are rare. It is not uncommon, however, for people to be a ‘carrier’ for one or more disorders.
\r\n\r\n
It is estimated that everyone of Ashkenazi Jewish ancestry has a 1 in 5 chance of carrying at least one of the main Jewish genetic disorders.
\r\n\r\n
\r\n\r\n
\r\n</div>', 'Sample Page', '', 'inherit', 'closed', 'closed', '', '2-revision-v1', '', '', '2018-02-05 05:58:00', '2018-02-05 05:58:00', '', 2, 'http://mlajnetics.local//?p=9', 0, 'revision', '', 0),
(10, 1, '2018-02-05 05:58:14', '2018-02-05 05:58:14', '<div class="col-md-9">\r\n\r\n<img src="http://www.jnetics.org//themes/site_themes/JGDnew/subpic-2.jpg" class="img-responsive" alt="image">\r\n\r\n<h2><br>\r\nIntroduction to Jewish Genetic Disorders</h2>\r\n\r\n<h3>What is a genetic disorder?</h3>\r\n\r\n<p>A genetic disorder is a condition that is caused by an abnormality in an individual’s <a href="http://www.jnetics.org/glossary#DNA">DNA</a>. Lots of different disorders are now known to be caused by this, and more are being described all the time. </p>\r\n\r\n<section id="jewish_genetic_disorders"></section><h3>What are Jewish genetic disorders?</h3>\r\n\r\n<p>These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does <b>not</b> mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.</p>\r\n\r\n<h3>Why are certain disorders more common among Jewish people?</h3>\r\n\r\n<p>Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world. </p>\r\n\r\n<h3>How many Jewish genetic disorders are there?</h3>\r\n\r\n<p>The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of <a href="http://www.jnetics.org/glossary#Sephardi_Jews">Sephardi ancestry</a> and some particularly affect those of <a href="http://www.jnetics.org/glossary#Ashkenazi_Jews">Ashkenazi ancestry</a>. </p>\r\n\r\n<h3>Do all Jewish people have the same likelihood of having these disorders?</h3>\r\n\r\n<p>Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews. </p>\r\n\r\n<p>Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco. </p>\r\n\r\n<h3>How are these disorders inherited?</h3>\r\n\r\n<p>Most Jewish genetic disorders are inherited in a <a href="http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics#recessive">recessive</a> way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected. </p>\r\n\r\n<p>With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives. </p>\r\n\r\n<p>A few of the disorders are inherited in a <a href="http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics#dominant">dominant</a> way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.</p>\r\n\r\n<p>For a more complete explanation about inheritance see <a href="http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics">introduction to genetics</a>.</p>\r\n\r\n<h3>How common are Jewish genetic disorders?</h3>\r\n\r\n<p>The majority of these conditions are rare. It is not uncommon, however, for people to be a <a href="http://www.jnetics.org/glossary#Carrier">‘carrier’</a> for one or more disorders. </p>\r\n\r\n<p><b class="colhigh">It is estimated that everyone of Ashkenazi Jewish ancestry has a 1 in 5 chance of carrying at least one of the main Jewish genetic disorders.</b></p>\r\n\r\n<p> </p>\r\n
\r\n\r\n\r\n\r\n\r\n \r\n\r\n\r\n\r\n\r\n
\r\nIntroduction to Jewish Genetic Disorders
\r\n\r\n
What is a genetic disorder?
\r\n\r\n
A genetic disorder is a condition that is caused by an abnormality in an individual’s DNA. Lots of different disorders are now known to be caused by this, and more are being described all the time.
\r\n\r\n
What are Jewish genetic disorders?
\r\n\r\n
These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does not mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.
\r\n\r\n
Why are certain disorders more common among Jewish people?
\r\n\r\n
Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world.
\r\n\r\n
How many Jewish genetic disorders are there?
\r\n\r\n
The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of Sephardi ancestry and some particularly affect those of Ashkenazi ancestry.
\r\n\r\n
Do all Jewish people have the same likelihood of having these disorders?
\r\n\r\n
Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews.
\r\n\r\n
Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco.
\r\n\r\n
How are these disorders inherited?
\r\n\r\n
Most Jewish genetic disorders are inherited in a recessive way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected.
\r\n\r\n
With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives.
\r\n\r\n
A few of the disorders are inherited in a dominant way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.
We focus primarily on genetic conditions affecting people with Ashkenazi Jewish ancestry. These conditions fall into two categories: a) ‘Higher prevalence ‘Jewish genetic disorders and b) Disorders with higher prevalence ‘Jewish’ mutations.
\r\n\r\n
a) Higher prevalence ‘Jewish’ genetic disorders:
\r\n\r\n
These are a very specific group of genetic conditions which are more common among people with Ashkenazi Jewish ancestry relative to the general population, and include:
b) Disorders with higher prevalence ‘Jewish’ mutations:
\r\n\r\n
We also focus on a group of conditions in which lots of different mutations can be behind the same disorder. The disorder itself is not more common among people of Ashkenazi Jewish ancestry, but a specific mutation or set of mutations are.
Cystic fibrosis may be somewhat less frequent in the Jewish population, but the frequency of certain mutations is increased. Breast and ovarian cancer is thought to be somewhat more frequent in the Jewish population and the frequency of at least three mutations in the BRCA 1 and 2 genes is increased.
\r\nDoes Jnetics cover disorders that affect the Sephardi community?
\r\n\r\n
People of Sephardi Jewish ancestry are at risk from a different group of genetic disorders than those affecting Ashkenazi Jews. Most of the disorders are specific to community of birth and do not affect all Sephardi Jewish people to the same extent.
\r\n\r\n
Jnetics covers one disorder – Familial Mediterranean Fever - that is of relevance to both Sephardi Jews as well as people of Ashkenazi Jewish origin. Information about a wide range of Sephardi disorders can be accessed through a link found in the Sephardi section. Jnetics hopes in the future to have the resources to expand this section further
\r\n\r\n
Will the spectrum of disorders covered expand in the future?
\r\n\r\n
It is very likely that new research will identify additional disorders that are especially relevant to the Jewish community, both Ashkenazi and Sephardi.
\r\n\r\n
Jnetics is monitoring research developments and, given the necessary resources, will include other genetic disorders over time that are of particular significance and of interest to the Jewish community.
We focus primarily on genetic conditions affecting people with Ashkenazi Jewish ancestry. These conditions fall into two categories: a) ‘Higher prevalence ‘Jewish genetic disorders and b) Disorders with higher prevalence ‘Jewish’ mutations.
\r\n\r\n
a) Higher prevalence ‘Jewish’ genetic disorders:
\r\n\r\n
These are a very specific group of genetic conditions which are more common among people with Ashkenazi Jewish ancestry relative to the general population, and include:
b) Disorders with higher prevalence ‘Jewish’ mutations:
\r\n\r\n
We also focus on a group of conditions in which lots of different mutations can be behind the same disorder. The disorder itself is not more common among people of Ashkenazi Jewish ancestry, but a specific mutation or set of mutations are.
Cystic fibrosis may be somewhat less frequent in the Jewish population, but the frequency of certain mutations is increased. Breast and ovarian cancer is thought to be somewhat more frequent in the Jewish population and the frequency of at least three mutations in the BRCA 1 and 2 genes is increased.
\r\nDoes Jnetics cover disorders that affect the Sephardi community?
\r\n\r\n
People of Sephardi Jewish ancestry are at risk from a different group of genetic disorders than those affecting Ashkenazi Jews. Most of the disorders are specific to community of birth and do not affect all Sephardi Jewish people to the same extent.
\r\n\r\n
Jnetics covers one disorder – Familial Mediterranean Fever - that is of relevance to both Sephardi Jews as well as people of Ashkenazi Jewish origin. Information about a wide range of Sephardi disorders can be accessed through a link found in the Sephardi section. Jnetics hopes in the future to have the resources to expand this section further
\r\n\r\n
Will the spectrum of disorders covered expand in the future?
\r\n\r\n
It is very likely that new research will identify additional disorders that are especially relevant to the Jewish community, both Ashkenazi and Sephardi.
\r\n\r\n
Jnetics is monitoring research developments and, given the necessary resources, will include other genetic disorders over time that are of particular significance and of interest to the Jewish community.
Genetics is the scientific study of heredity, or how particular qualities, traits, or genes are transmitted from parents to offspring.
\r\n\r\n\r\n
Basic concepts in genetics:
\r\n\r\n
Genes \r\nThese are the basic units of inheritance. Genes are made of a chemical called deoxyribonucleic acid, commonly referred to as DNA. Each gene contains instructions for making a specific protein, and each protein has a particular function in the body. As such, genes guide the development of the body e.g. determine eye and hair colour and instruct the body to make enzymes for biochemical processes.
\r\n\r\n
Chromosomes \r\nGenes are packaged into structures called chromosomes that are found in the nucleus of every human cell. Chromosomes come in pairs, and a normal human cell contains 46 chromosomes consisting of 23 pairs. Every individual receives half their chromosomes from their mother and half from their father.
\r\n\r\n
Mutation \r\nA mutation refers to a structural change in a gene. It can be an alteration to a gene’s size, arrangement, or molecular sequence. Genetic disorders can arise when one or both copies of a specific gene have undergone a mutation.
\r\n\r\n\r\n\r\n
Understanding autosomal dominant inheritance:
\r\n\r\n
When an alteration in just one copy of a gene pair causes a genetic disorder, the disorder is referred to as dominant. An individual who possesses a gene for a dominant disorder usually manifests the disorder and is affected by it.
\r\n\r\n
Since each parent passes only one copy of every gene to a child, a child conceived by a couple where one individual carries a mutation has a 50% chance of inheriting the abnormal copy of the gene and a 50% chance of inheriting the normal copy of the gene. The same risk applies to each conception, regardless of the outcome of previous conceptions.
\r\n\r\n
\r\n\r\n
Sometimes a dominant disorder appears in an individual whose parents do not manifest the disorder. This situation occurs when either:
\r\n\r\n
a) A new mutation in a dominant gene causes a disorder to appear for the first time in a family.
\r\n\r\n
b) The disorder has reduced penetrance, meaning that only a percentage of individuals who have the mutated gene will develop the disorder, e.g. DYT1 Generalised Dystonia.
\r\n\r\n
Dominant disorders can occur in multiple generations in a family and there can be multiple affected family members in one generation. Except when there has been a new mutation, every affected individual has a parent who carries the mutation.
\r\n\r\n\r\n\r\n
Understanding autosomal recessive inheritance:
\r\n\r\n
When alterations in both copies of a gene pair are required for a disorder to manifest, the disorder is referred to as recessive. With recessive inheritance, a single normal copy of a gene appears to compensate for the mutated one to prevent the disorder developing.
\r\n\r\n\r\n\r\n
An individual who has one mutated copy of a recessive gene and one non-mutated copy is referred to as a carrier. Carriers are unaffected by the disorder but can pass the mutated gene on to their children. When both partners in a couple are carriers, their children will have a 25% chance of inheriting the disorder, a 50% chance of becoming carriers and a 25% chance of inheriting both normal copies of the gene. The same risk applies to each conception, regardless of the outcome of previous conceptions.
\r\n\r\n
\r\n\r\n
There is typically no “family history” with autosomal recessive disorders, since these conditions require both parents to be carriers. Tay-Sachs disease is an example of a recessive disorder.
\r\n\r\n\r\n\r\n
X-linked inheritance:
\r\n\r\n
In X-linked disorders, there is a mutated gene on the X chromosome. Unlike autosomal inheritance, the possibilities of having affected children, depend on which parent transmits the altered gene.
\r\n\r\n
Males receive a Y chromosome from their father and an X chromosome from their mother, whereas females receive an X chromosome from both parents. Men are affected by X-linked disorders because they have only one copy of the X chromosome and have no “backup” copy to make the necessary protein product. Women who have one mutated copy of the gene tend to be unaffected because their one functional copy compensates for their non-functional one.
\r\n\r\n
The only established example of an X-linked Jewish genetic disorder is glucose-6-phosphate dehydrogenase (G6PD) deficiency which has an increased incidence in some people of Sephardi Jewish ancestry.
A genetic disorder is a condition that is caused by an abnormality in an individual’s DNA. Lots of different disorders are now known to be caused by this, and more are being described all the time.
\r\n\r\n
What are Jewish genetic disorders?
\r\n\r\n
These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does not mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.
\r\n\r\n
Why are certain disorders more common among Jewish people?
\r\n\r\n
Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world.
\r\n\r\n
How many Jewish genetic disorders are there?
\r\n\r\n
The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of Sephardi ancestry and some particularly affect those of Ashkenazi ancestry.
\r\n\r\n
Do all Jewish people have the same likelihood of having these disorders?
\r\n\r\n
Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews.
\r\n\r\n
Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco.
\r\n\r\n
How are these disorders inherited?
\r\n\r\n
Most Jewish genetic disorders are inherited in a recessive way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected.
\r\n\r\n
With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives.
\r\n\r\n
A few of the disorders are inherited in a dominant way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.
Genetics is the scientific study of heredity, or how particular qualities, traits, or genes are transmitted from parents to offspring.
\r\n\r\n\r\n
Basic concepts in genetics:
\r\n\r\n
Genes \r\nThese are the basic units of inheritance. Genes are made of a chemical called deoxyribonucleic acid, commonly referred to as DNA. Each gene contains instructions for making a specific protein, and each protein has a particular function in the body. As such, genes guide the development of the body e.g. determine eye and hair colour and instruct the body to make enzymes for biochemical processes.
\r\n\r\n
Chromosomes \r\nGenes are packaged into structures called chromosomes that are found in the nucleus of every human cell. Chromosomes come in pairs, and a normal human cell contains 46 chromosomes consisting of 23 pairs. Every individual receives half their chromosomes from their mother and half from their father.
\r\n\r\n
Mutation \r\nA mutation refers to a structural change in a gene. It can be an alteration to a gene’s size, arrangement, or molecular sequence. Genetic disorders can arise when one or both copies of a specific gene have undergone a mutation.
\r\n\r\n\r\n\r\n
Understanding autosomal dominant inheritance:
\r\n\r\n
When an alteration in just one copy of a gene pair causes a genetic disorder, the disorder is referred to as dominant. An individual who possesses a gene for a dominant disorder usually manifests the disorder and is affected by it.
\r\n\r\n
Since each parent passes only one copy of every gene to a child, a child conceived by a couple where one individual carries a mutation has a 50% chance of inheriting the abnormal copy of the gene and a 50% chance of inheriting the normal copy of the gene. The same risk applies to each conception, regardless of the outcome of previous conceptions.
\r\n\r\n
\r\n\r\n
Sometimes a dominant disorder appears in an individual whose parents do not manifest the disorder. This situation occurs when either:
\r\n\r\n
a) A new mutation in a dominant gene causes a disorder to appear for the first time in a family.
\r\n\r\n
b) The disorder has reduced penetrance, meaning that only a percentage of individuals who have the mutated gene will develop the disorder, e.g. DYT1 Generalised Dystonia.
\r\n\r\n
Dominant disorders can occur in multiple generations in a family and there can be multiple affected family members in one generation. Except when there has been a new mutation, every affected individual has a parent who carries the mutation.
\r\n\r\n\r\n\r\n
Understanding autosomal recessive inheritance:
\r\n\r\n
When alterations in both copies of a gene pair are required for a disorder to manifest, the disorder is referred to as recessive. With recessive inheritance, a single normal copy of a gene appears to compensate for the mutated one to prevent the disorder developing.
\r\n\r\n\r\n\r\n
An individual who has one mutated copy of a recessive gene and one non-mutated copy is referred to as a carrier. Carriers are unaffected by the disorder but can pass the mutated gene on to their children. When both partners in a couple are carriers, their children will have a 25% chance of inheriting the disorder, a 50% chance of becoming carriers and a 25% chance of inheriting both normal copies of the gene. The same risk applies to each conception, regardless of the outcome of previous conceptions.
\r\n\r\n
\r\n\r\n
There is typically no “family history” with autosomal recessive disorders, since these conditions require both parents to be carriers. Tay-Sachs disease is an example of a recessive disorder.
\r\n\r\n\r\n\r\n
X-linked inheritance:
\r\n\r\n
In X-linked disorders, there is a mutated gene on the X chromosome. Unlike autosomal inheritance, the possibilities of having affected children, depend on which parent transmits the altered gene.
\r\n\r\n
Males receive a Y chromosome from their father and an X chromosome from their mother, whereas females receive an X chromosome from both parents. Men are affected by X-linked disorders because they have only one copy of the X chromosome and have no “backup” copy to make the necessary protein product. Women who have one mutated copy of the gene tend to be unaffected because their one functional copy compensates for their non-functional one.
\r\n\r\n
The only established example of an X-linked Jewish genetic disorder is glucose-6-phosphate dehydrogenase (G6PD) deficiency which has an increased incidence in some people of Sephardi Jewish ancestry.
For over 2000 years Jews have been a migratory people establishing communities throughout the Middle East and Mediterranean basin. Contemporary Jewish populations can be divided into three groups according to their area of long-term residence: Middle Eastern (or Oriental) Jews, Sephardi Jews, and Ashkenazi Jews.
\r\n\r\n
From the 6th to 9th century, some Jews migrated from the Middle East west to Germany, France and England. In the 12th and 13th centuries, these Jews were expelled from Western Europe and moved east, settling largely in Poland, Lithuania, Belarus, the Ukraine and Russia, where they remained, largely isolated, for the following five centuries.
\r\n\r\n
In the late 19th and early 20th centuries, this population, now referred to as Ashkenazi Jewry, moved westwards with large migrations to the Americas, Western Europe, Australia and South Africa and some returning to the area which is now modern Israel.
\r\n\r\n
In Britain, it is estimated that 90% - 95% of Jewish people are of Ashkenazi Jewish ancestry.
\r\n\r\n
Genetic disorders among Ashkenazi Jews:
\r\n\r\n
Having been reproductively isolated for centuries – and having grown from a small number of founders into a large population in a fairly short period – Ashkenazi Jews are a relatively homogenous group that have inherited a range of rare genetic disorders.
\r\n\r\n
For over 50 years, much research has focused on identifying genetic disorders among people of Ashkenazi descent. More than 20 disorders have been established as being of particular relevance to this group. Though rare, many are serious, debilitating and life-shortening.
\r\n\r\n
Summary of Ashkenazi Jewish genetic disorders:
\r\n\r\n
The link below provides a summary of some genetic disorders that are particularly relevant to people of Ashkenazi ancestry.
Other disorders established as being of higher prevalence among Ashkenazi Jews include: non-syndromic hearing loss and maple syrup urine disease.
\r\n\r\n
Further information:
\r\n\r\n
For more information about each of these disorders, please click on the relevant disorder page within the Ashkenazi Disorders section on the left of this page.
\r\n\r\n
PLEASE NOTE: These disorder pages are provided for information and educational purposes only and do NOT represent advice regarding individual medical cases. If you have personal concerns about being affected by any of these disorders, we recommend that you consult with your doctor or another relevant healthcare specialist.
For over 2000 years Jews have been a migratory people establishing communities throughout the Middle East and Mediterranean basin. Contemporary Jewish populations can be divided into three groups according to their area of long-term residence: Middle Eastern (or Oriental) Jews, Sephardi Jews, and Ashkenazi Jews.
\r\n\r\n
From the 6th to 9th century, some Jews migrated from the Middle East west to Germany, France and England. In the 12th and 13th centuries, these Jews were expelled from Western Europe and moved east, settling largely in Poland, Lithuania, Belarus, the Ukraine and Russia, where they remained, largely isolated, for the following five centuries.
\r\n\r\n
In the late 19th and early 20th centuries, this population, now referred to as Ashkenazi Jewry, moved westwards with large migrations to the Americas, Western Europe, Australia and South Africa and some returning to the area which is now modern Israel.
\r\n\r\n
In Britain, it is estimated that 90% - 95% of Jewish people are of Ashkenazi Jewish ancestry.
\r\n\r\n
Genetic disorders among Ashkenazi Jews:
\r\n\r\n
Having been reproductively isolated for centuries – and having grown from a small number of founders into a large population in a fairly short period – Ashkenazi Jews are a relatively homogenous group that have inherited a range of rare genetic disorders.
\r\n\r\n
For over 50 years, much research has focused on identifying genetic disorders among people of Ashkenazi descent. More than 20 disorders have been established as being of particular relevance to this group. Though rare, many are serious, debilitating and life-shortening.
\r\n\r\n
Summary of Ashkenazi Jewish genetic disorders:
\r\n\r\n
The link below provides a summary of some genetic disorders that are particularly relevant to people of Ashkenazi ancestry.
Other disorders established as being of higher prevalence among Ashkenazi Jews include: non-syndromic hearing loss and maple syrup urine disease.
\r\n\r\n
Further information:
\r\n\r\n
For more information about each of these disorders, please click on the relevant disorder page within the Ashkenazi Disorders section on the left of this page.
\r\n\r\n
PLEASE NOTE: These disorder pages are provided for information and educational purposes only and do NOT represent advice regarding individual medical cases. If you have personal concerns about being affected by any of these disorders, we recommend that you consult with your doctor or another relevant healthcare specialist.
The Jewish people originated in the Middle East and part of the population has lived in that region throughout their long history. This segment, known as Oriental or Middle Eastern Jewry, resided in the areas of contemporary Israel, as well as Iran, Iraq, Central Asia and the Arabian Peninsula including Iran, Yemen, India, Kurdistan, Afghanistan, and Bukhara.
\r\n\r\n
During the westward expansion of the Greco-Roman Empires, and the later spreading of Islamic civilization towards Spain, Oriental Jewry began to migrating west. Communities established in Spain and Portugal forming the basis of what is now known as Sephardi Jewry. Following expulsion from Spain in the 15th century, Sephardi Jews moved to North Africa, then also to the eastern basin of the Mediterranean (Italy, Turkey, the Balkans, Lebanon, and Syria). Sephardi Jewry also evolved in parts of Western Europe and the Americas.
\r\n\r\n
Although Sephardi Jewry is historically and genetically quite distinct from Oriental Jewry the term ‘Sephardi’ is now commonly used to include either Jewish population, or any Jew who is simply not of Ashkenazi ancestry.
\r\n\r\n
In Britain, it is estimated that only 5% - 10% of Jewish people are of non-Ashkenazi ancestry.
\r\n\r\n\r\n
The diversity of genetic disorders affecting Sephardic Jews:
\r\n\r\n
Experts in Sephardi studies and Jewish population genetics challenge the existence of a coherent group of ‘Sephardi disorders’. They suggest instead that most disorders are specific to the community of birth and do not affect Sephardi Jews as a unified group e.g. disorders affecting Moroccan Jews differ from those affecting Tunisian Jews etc.
\r\n\r\n
The diversity and segregated nature of the conditions relevant to people of Sephardi ancestry largely reflects the diverse and segregated nature of the Sephardi Jewish communities.
\r\n\r\n
Like Ashkenazi Jews, they developed unique sets of genetic disorders because they were isolated reproductively from the populations around them. In addition, however, the Sephardi communities were largely isolated geographically and thus reproductively from each other.
\r\n\r\n
Jnetics and disorders that affect the Sephardi community
\r\n\r\n
Jnetics believes that it is important to include disorders that affect people of Sephardi Jewish ancestry. However, the list of these disorders is extensive and diverse with the conditions often only affecting a small subset of Sephardi population. As such, only a list of the main Sephardi conditions and links to further information can be provided at this time.
\r\n\r\n
One Sephardi disorder that is common to many (but not all) Sephardi populations as well as the Ashkenazi population, is Familial Mediterranean Fever (FMF). Further information on this disorder can be viewed by clicking the FMF link above.
\r\n\r\n
In the future, and given the necessary resources, we hope to be able to provide more in depth information about other disorders that affect the Sephardi community.
\r\n
Summary of genetic disorders affecting Sephardi Jews:
\r\n\r\n
The Israeli Ministry of Health website publishes lists of genetic disorders that affect different Jewish populations. Separate lists exist for Jews from North Africa (except Morocco), Morocco, Yemen, Iraq, Iran and other locations. The lists can be found here on their website.
\r\n\r\n
A few of the disorders listed are shared across several communities, particularly in North Africa. Some of these disorders are thought to have become common because they conferred an advantage to people who were carriers.
\r\n\r\n
Four recessive disorders are quoted by some American Jewish genetic screening centres as being shared across several non-Ashkenazi communities in the Mediterranean basin and North Africa. These are: beta-thalassemia, glucose-6-phosphate dehydrogenase deficiency, familial Mediterranean fever, and glycogen storage disease (type III). Further information about these disorders can be found via the link below:
Information about familial Mediterranean fever is now available on our FMF webpage.
\r\n\r\n
It is important to note that disorders relevant to Sephardi Jewry are also found among many other populations in North Africa and the Mediterranean and are far from exclusively ‘Jewish’.
\r\n\r\n\r\n
Screening for disorders affecting people of Sephardi ancestry:
\r\n\r\n
Relatively little attention has been paid internationally to developing screening for disorders affecting Sephardi Jewry. In 2009, the first population-based program began in the USA to screen for four genetic disorders that occur with relative high frequency among Iranian Jews.
\r\n\r\n
In the UK, no community screening programmes exists that specifically cover disorders that affect people of Sephardi Jewish ancestry. However, genetic testing is available on the NHS for individuals with an increased risk of a particular disorder given they have a clear family history or valid concern about that disorder.
\r\n\r\n
For more information about accessing genetic testing, see the screening and testing section.
The Jewish people originated in the Middle East and part of the population has lived in that region throughout their long history. This segment, known as Oriental or Middle Eastern Jewry, resided in the areas of contemporary Israel, as well as Iran, Iraq, Central Asia and the Arabian Peninsula including Iran, Yemen, India, Kurdistan, Afghanistan, and Bukhara.
\r\n\r\n
During the westward expansion of the Greco-Roman Empires, and the later spreading of Islamic civilization towards Spain, Oriental Jewry began to migrating west. Communities established in Spain and Portugal forming the basis of what is now known as Sephardi Jewry. Following expulsion from Spain in the 15th century, Sephardi Jews moved to North Africa, then also to the eastern basin of the Mediterranean (Italy, Turkey, the Balkans, Lebanon, and Syria). Sephardi Jewry also evolved in parts of Western Europe and the Americas.
\r\n\r\n
Although Sephardi Jewry is historically and genetically quite distinct from Oriental Jewry the term ‘Sephardi’ is now commonly used to include either Jewish population, or any Jew who is simply not of Ashkenazi ancestry.
\r\n\r\n
In Britain, it is estimated that only 5% - 10% of Jewish people are of non-Ashkenazi ancestry.
\r\n\r\n\r\n
The diversity of genetic disorders affecting Sephardic Jews:
\r\n\r\n
Experts in Sephardi studies and Jewish population genetics challenge the existence of a coherent group of ‘Sephardi disorders’. They suggest instead that most disorders are specific to the community of birth and do not affect Sephardi Jews as a unified group e.g. disorders affecting Moroccan Jews differ from those affecting Tunisian Jews etc.
\r\n\r\n
The diversity and segregated nature of the conditions relevant to people of Sephardi ancestry largely reflects the diverse and segregated nature of the Sephardi Jewish communities.
\r\n\r\n
Like Ashkenazi Jews, they developed unique sets of genetic disorders because they were isolated reproductively from the populations around them. In addition, however, the Sephardi communities were largely isolated geographically and thus reproductively from each other.
\r\n\r\n
Jnetics and disorders that affect the Sephardi community
\r\n\r\n
Jnetics believes that it is important to include disorders that affect people of Sephardi Jewish ancestry. However, the list of these disorders is extensive and diverse with the conditions often only affecting a small subset of Sephardi population. As such, only a list of the main Sephardi conditions and links to further information can be provided at this time.
\r\n\r\n
One Sephardi disorder that is common to many (but not all) Sephardi populations as well as the Ashkenazi population, is Familial Mediterranean Fever (FMF). Further information on this disorder can be viewed by clicking the FMF link above.
\r\n\r\n
In the future, and given the necessary resources, we hope to be able to provide more in depth information about other disorders that affect the Sephardi community.
\r\n
Summary of genetic disorders affecting Sephardi Jews:
\r\n\r\n
The Israeli Ministry of Health website publishes lists of genetic disorders that affect different Jewish populations. Separate lists exist for Jews from North Africa (except Morocco), Morocco, Yemen, Iraq, Iran and other locations. The lists can be found here on their website.
\r\n\r\n
A few of the disorders listed are shared across several communities, particularly in North Africa. Some of these disorders are thought to have become common because they conferred an advantage to people who were carriers.
\r\n\r\n
Four recessive disorders are quoted by some American Jewish genetic screening centres as being shared across several non-Ashkenazi communities in the Mediterranean basin and North Africa. These are: beta-thalassemia, glucose-6-phosphate dehydrogenase deficiency, familial Mediterranean fever, and glycogen storage disease (type III). Further information about these disorders can be found via the link below:
Information about familial Mediterranean fever is now available on our FMF webpage.
\r\n\r\n
It is important to note that disorders relevant to Sephardi Jewry are also found among many other populations in North Africa and the Mediterranean and are far from exclusively ‘Jewish’.
\r\n\r\n\r\n
Screening for disorders affecting people of Sephardi ancestry:
\r\n\r\n
Relatively little attention has been paid internationally to developing screening for disorders affecting Sephardi Jewry. In 2009, the first population-based program began in the USA to screen for four genetic disorders that occur with relative high frequency among Iranian Jews.
\r\n\r\n
In the UK, no community screening programmes exists that specifically cover disorders that affect people of Sephardi Jewish ancestry. However, genetic testing is available on the NHS for individuals with an increased risk of a particular disorder given they have a clear family history or valid concern about that disorder.
\r\n\r\n
For more information about accessing genetic testing, see the screening and testing section.
Cancer is a group of diseases that can affect any part of the body, and involves the rapid creation of abnormal cells that grow beyond their usual boundaries. These cells can invade adjoining parts of the body and spread to other organs.
\r\n\r\n
Cancers occur when genetic changes known as ‘mutations’ within the DNA, cause the cells in the body to behave abnormally. Mutations may cause a cell to divide and grow uncontrollably, leading to ‘malignant’ tumours. These tumours spread to other sites in the body where they grow and replace normal tissue, which can be life-threatening.
\r\n\r\n
Cancers are named based on the part of the body in which they were first identified, regardless of where in the body they spread. For example, breast cancer that spreads to the liver is still classified as breast cancer and not as liver cancer.
\r\n\r\n
What is hereditary cancer?
\r\n\r\n
Cancer can be hereditary or non-hereditary. Hereditary cancers are passed down in families and occur when a cancer-causing mutation is passed on to an individual’s children. Non-hereditary cancers occur independently of family history. This website focuses only on hereditary cancers. For information on non-hereditary cancers, the Cancer Research UK website is a useful resource.
\r\n\r\n
If a person inherits a cancer-causing mutation from a parent, it does not mean that they will definitely develop cancer during their lifetime, however, they will be at increased risk compared to the rest of the population. This is known as having a genetic predisposition to cancer. The reason that being predisposed does not necessarily mean that cancer will develop is due to the many other environmental and genetic factors that need to be in place for cancer to occur. Hereditary cancers sometimes can skip generations. For example, although a parent and child may share a cancer-causing mutation, it is possible that the parent will never develop cancer whilst the child does. \r\n \r\nHereditary cancers tend to affect multiple members of the same family including both immediate family members such as siblings and parents and non-immediate family members such as aunts or cousins. It is not unusual to see instances of the same or related cancers in multiple branches of the family tree.
\r\n\r\n
How common are hereditary cancers?
\r\n\r\n
Hereditary cancers are rare. It is estimated that only about 2 – 3% of all cancers are known to be linked to a cancer-causing mutation. If you have a relative who has or has had cancer, you may be concerned that you are at a greater risk of developing it yourself, however, this is not the case for most people. Cancer is most common in older people and affects 1 in 2 people in the UK at some point in their lives. Therefore, most families will have at least one person who has or has had cancer. The more relatives who have had the same type of cancer or related cancers and the younger their age at diagnosis, the more likely it is that the cancer is hereditary.
\r\n\r\n
Types of hereditary cancer
\r\n\r\n
There are many types of hereditary cancers which are caused by mutations in different genes. This website provides information on BRCA-associated breast, ovarian and prostate cancers that are caused by mutations in the BRCA1 and BRCA2 genes (BRCA-associated cancer) and are more common in Ashkenazi Jews than in the general population. Other hereditary cancers such as colorectal cancer are also thought to be relatively more common in Ashkenazi Jews. For information on hereditary colorectal and other hereditary cancers, Cancer Research UK and the Centre for Jewish Genetics in the US provide useful information.
\r\n\r\n
If you are concerned about cancer in your family, talk to your GP about your family’s cancer history. If appropriate, they will refer you to your regional genetics clinic where a genetic counsellor will provide you with support and information and will discuss with you whether genetic testing is an appropriate option.
\r\n\r\n
\r\n\r\n
Written by Jnetics. \r\nApproved by Professor Rosalind Eeles Professor of Oncogenetics at The Institute of Cancer Research, The Royal Marsden Hospital London \r\nLast review: 10.09.2016
Cancer is a group of diseases that can affect any part of the body, and involves the rapid creation of abnormal cells that grow beyond their usual boundaries. These cells can invade adjoining parts of the body and spread to other organs.
\r\n\r\n
Cancers occur when genetic changes known as ‘mutations’ within the DNA, cause the cells in the body to behave abnormally. Mutations may cause a cell to divide and grow uncontrollably, leading to ‘malignant’ tumours. These tumours spread to other sites in the body where they grow and replace normal tissue, which can be life-threatening.
\r\n\r\n
Cancers are named based on the part of the body in which they were first identified, regardless of where in the body they spread. For example, breast cancer that spreads to the liver is still classified as breast cancer and not as liver cancer.
\r\n\r\n
What is hereditary cancer?
\r\n\r\n
Cancer can be hereditary or non-hereditary. Hereditary cancers are passed down in families and occur when a cancer-causing mutation is passed on to an individual’s children. Non-hereditary cancers occur independently of family history. This website focuses only on hereditary cancers. For information on non-hereditary cancers, the Cancer Research UK website is a useful resource.
\r\n\r\n
If a person inherits a cancer-causing mutation from a parent, it does not mean that they will definitely develop cancer during their lifetime, however, they will be at increased risk compared to the rest of the population. This is known as having a genetic predisposition to cancer. The reason that being predisposed does not necessarily mean that cancer will develop is due to the many other environmental and genetic factors that need to be in place for cancer to occur. Hereditary cancers sometimes can skip generations. For example, although a parent and child may share a cancer-causing mutation, it is possible that the parent will never develop cancer whilst the child does. \r\n \r\nHereditary cancers tend to affect multiple members of the same family including both immediate family members such as siblings and parents and non-immediate family members such as aunts or cousins. It is not unusual to see instances of the same or related cancers in multiple branches of the family tree.
\r\n\r\n
How common are hereditary cancers?
\r\n\r\n
Hereditary cancers are rare. It is estimated that only about 2 – 3% of all cancers are known to be linked to a cancer-causing mutation. If you have a relative who has or has had cancer, you may be concerned that you are at a greater risk of developing it yourself, however, this is not the case for most people. Cancer is most common in older people and affects 1 in 2 people in the UK at some point in their lives. Therefore, most families will have at least one person who has or has had cancer. The more relatives who have had the same type of cancer or related cancers and the younger their age at diagnosis, the more likely it is that the cancer is hereditary.
\r\n\r\n
Types of hereditary cancer
\r\n\r\n
There are many types of hereditary cancers which are caused by mutations in different genes. This website provides information on BRCA-associated breast, ovarian and prostate cancers that are caused by mutations in the BRCA1 and BRCA2 genes (BRCA-associated cancer) and are more common in Ashkenazi Jews than in the general population. Other hereditary cancers such as colorectal cancer are also thought to be relatively more common in Ashkenazi Jews. For information on hereditary colorectal and other hereditary cancers, Cancer Research UK and the Centre for Jewish Genetics in the US provide useful information.
\r\n\r\n
If you are concerned about cancer in your family, talk to your GP about your family’s cancer history. If appropriate, they will refer you to your regional genetics clinic where a genetic counsellor will provide you with support and information and will discuss with you whether genetic testing is an appropriate option.
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Written by Jnetics. \r\nApproved by Professor Rosalind Eeles Professor of Oncogenetics at The Institute of Cancer Research, The Royal Marsden Hospital London \r\nLast review: 10.09.2016
Jewish genetic disorders are conditions that although not exclusive to Jewish people, are relatively more common in people of Jewish ancestry than in the general population. If you or a family member is Jewish and has unexplained symptoms that you believe could be a Jewish genetic disorder, you should raise these concerns with your GP.
\r\n\r\n
Your GP will always consider the most obvious cause for a group of symptoms. However it is possible that they may not consider the option of a Jewish genetic disorder. This may be because:
\r\n\r\n
\r\n
Some Jewish genetic disorders are extremely rare so your GP may not have come across the disorder before
\r\n
Symptoms may not be specific to the disorder and may present in a similar way to the symptoms of more common conditions
\r\n
Some disorders can exhibit a range of symptoms even within members of the same family
\r\n
There may be no history of the disorder within your family
\r\n
They may not know that you have Jewish ancestry
\r\n
\r\n\r\n
Help your doctor to help you
\r\n\r\n
Ensure that your healthcare professional is aware of:
\r\n\r\n
\r\n
Your Jewish ancestry, and in particular if you are of Ashkenazi origin
\r\n
Any relevant family history of a Jewish genetic disorder
\r\n
Symptoms that match those of the disorder you are concerned about - compare the symptoms which are concerning you with those listed on this website and print out the relevant web page to show your doctor
\r\n
The Jnetics web portal providing information on Jewish genetic disorders for healthcare professionals
\r\n
\r\n\r\n
For further support on talking to your GP about Jewish genetic disorders, do contact us at info@jnetics.org.
\r\n\r\n
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Jewish genetic disorders are conditions that although not exclusive to Jewish people, are relatively more common in people of Jewish ancestry than in the general population. If you or a family member is Jewish and has unexplained symptoms that you believe could be a Jewish genetic disorder, you should raise these concerns with your GP.
\r\n\r\n
Your GP will always consider the most obvious cause for a group of symptoms. However it is possible that they may not consider the option of a Jewish genetic disorder. This may be because:
\r\n\r\n
\r\n
Some Jewish genetic disorders are extremely rare so your GP may not have come across the disorder before
\r\n
Symptoms may not be specific to the disorder and may present in a similar way to the symptoms of more common conditions
\r\n
Some disorders can exhibit a range of symptoms even within members of the same family
\r\n
There may be no history of the disorder within your family
\r\n
They may not know that you have Jewish ancestry
\r\n
\r\n\r\n
Help your doctor to help you
\r\n\r\n
Ensure that your healthcare professional is aware of:
\r\n\r\n
\r\n
Your Jewish ancestry, and in particular if you are of Ashkenazi origin
\r\n
Any relevant family history of a Jewish genetic disorder
\r\n
Symptoms that match those of the disorder you are concerned about - compare the symptoms which are concerning you with those listed on this website and print out the relevant web page to show your doctor
\r\n
The Jnetics web portal providing information on Jewish genetic disorders for healthcare professionals
\r\n
\r\n\r\n
For further support on talking to your GP about Jewish genetic disorders, do contact us at info@jnetics.org.
Genetic testing refers to any testing procedure used to detect the presence or absence of, or a change in, a particular gene or chromosome.
\r\n\r\n
There are a number of different circumstances under which genetic testing may be offered. For example, testing can be used to confirm whether a person has or is likely to develop a genetic disorder, or if he or she is at risk of passing a genetic condition onto their children.
\r\n\r\n
When is genetic testing used?
\r\n\r\n
Genetic testing is used for a number of different purposes. Tests are referred to differently accordingly to their purpose and context, however, the laboratory procedures used across the various tests are often exactly the same.
Diagnostic testing – generally used to help diagnose a genetic condition in a person who is already exhibiting symptoms suggestive of a particular disorder.
\r\n\r\n
Carrier testing - used to test whether or not a person carries one copy of a disorder-causing gene. Carrier testing is offered to individuals who, though usually unaffected by a particular disorder themselves, are at risk of passing it on to their children given their family history or ethnicity.
\r\n\r\n
Prenatal testing – used with pregnant women to determine whether or not the foetus is affected by, or at risk of being affected by, a genetic condition.
\r\n\r\n
Predictive testing – used to identify the presence of a specific mutation for a genetic disorder in a person who does not have symptoms but is at risk of developing the disorder later in life.
\r\n\r\n
\r\n\r\n
More information about each of these tests can be accessed by clicking on the relevant tabs in the side menu bar.
\r\n\r\n
What is genetic screening?
\r\n\r\n
Often the terms ‘screening’ and ‘testing’ are used interchangeably, even though they are not the same. The following descriptions help to highlight the differences between the two processes.
\r\n\r\n
\r\n
Carrier screening is a process of systematically offering a carrier test to a whole population (or sub-population) of healthy people, for a gene mutation that is known to be common in that group.
\r\n\r\n
Carrier testing refers to the tests that an individual would have, which may form part of a population screening process.
\r\n
\r\n\r\n
More information about carrier screening and testing for Jewish genetic disorders, genetic counselling, and information for carriers can be accessed by clicking on the relevant side menu tabs. Throughout all the materials there are a number of links that can be clicked on to view further information and support.
Genetic testing refers to any testing procedure used to detect the presence or absence of, or a change in, a particular gene or chromosome.
\r\n\r\n
There are a number of different circumstances under which genetic testing may be offered. For example, testing can be used to confirm whether a person has or is likely to develop a genetic disorder, or if he or she is at risk of passing a genetic condition onto their children.
\r\n\r\n
When is genetic testing used?
\r\n\r\n
Genetic testing is used for a number of different purposes. Tests are referred to differently accordingly to their purpose and context, however, the laboratory procedures used across the various tests are often exactly the same.
Diagnostic testing – generally used to help diagnose a genetic condition in a person who is already exhibiting symptoms suggestive of a particular disorder.
\r\n\r\n
Carrier testing - used to test whether or not a person carries one copy of a disorder-causing gene. Carrier testing is offered to individuals who, though usually unaffected by a particular disorder themselves, are at risk of passing it on to their children given their family history or ethnicity.
\r\n\r\n
Prenatal testing – used with pregnant women to determine whether or not the foetus is affected by, or at risk of being affected by, a genetic condition.
\r\n\r\n
Predictive testing – used to identify the presence of a specific mutation for a genetic disorder in a person who does not have symptoms but is at risk of developing the disorder later in life.
\r\n\r\n
\r\n\r\n
More information about each of these tests can be accessed by clicking on the relevant tabs in the side menu bar.
\r\n\r\n
What is genetic screening?
\r\n\r\n
Often the terms ‘screening’ and ‘testing’ are used interchangeably, even though they are not the same. The following descriptions help to highlight the differences between the two processes.
\r\n\r\n
\r\n
Carrier screening is a process of systematically offering a carrier test to a whole population (or sub-population) of healthy people, for a gene mutation that is known to be common in that group.
\r\n\r\n
Carrier testing refers to the tests that an individual would have, which may form part of a population screening process.
\r\n
\r\n\r\n
More information about carrier screening and testing for Jewish genetic disorders, genetic counselling, and information for carriers can be accessed by clicking on the relevant side menu tabs. Throughout all the materials there are a number of links that can be clicked on to view further information and support.
This refers to a genetic test used to help confirm or rule out a suspected genetic condition in a person who is showing symptoms.
\r\n\r\n
Someone may be offered diagnostic genetic testing if they were exhibiting symptoms that suggested a specific genetic condition. This type of testing can be carried out on individuals of any age to help establish a diagnosis.
\r\n\r\n
How can diagnostic testing be arranged?
\r\n\r\n
If a doctor suspects that a person’s health problems are as a result of a genetic disorder, they can arrange for genetic testing to be performed to clarify the diagnosis. Diagnostic testing may also be arranged by a specialist e.g. a paediatrician who would send a blood sample to a genetics laboratory or by a clinical geneticist (a doctor specialising in diagnosing genetic conditions) who would organise the appropriate genetic testing directly.
\r\n\r\n
Things to consider prior to having diagnostic testing
\r\n\r\n
Diagnostic testing has the benefit of confirming a diagnosis and so can help an individual to access the appropriate medical management for their condition. It is important to remember, however, that establishing a diagnosis in an individual may have implications for other family members as well.
\r\n\r\n
When considering having diagnostic genetic testing, it is important to meet with a genetic counsellor who will help explain the varied implications for you and other family members. For more information about the purpose, benefits and how to contact a genetic counsellor, please refer to the genetic counselling section.
This refers to a genetic test used to help confirm or rule out a suspected genetic condition in a person who is showing symptoms.
\r\n\r\n
Someone may be offered diagnostic genetic testing if they were exhibiting symptoms that suggested a specific genetic condition. This type of testing can be carried out on individuals of any age to help establish a diagnosis.
\r\n\r\n
How can diagnostic testing be arranged?
\r\n\r\n
If a doctor suspects that a person’s health problems are as a result of a genetic disorder, they can arrange for genetic testing to be performed to clarify the diagnosis. Diagnostic testing may also be arranged by a specialist e.g. a paediatrician who would send a blood sample to a genetics laboratory or by a clinical geneticist (a doctor specialising in diagnosing genetic conditions) who would organise the appropriate genetic testing directly.
\r\n\r\n
Things to consider prior to having diagnostic testing
\r\n\r\n
Diagnostic testing has the benefit of confirming a diagnosis and so can help an individual to access the appropriate medical management for their condition. It is important to remember, however, that establishing a diagnosis in an individual may have implications for other family members as well.
\r\n\r\n
When considering having diagnostic genetic testing, it is important to meet with a genetic counsellor who will help explain the varied implications for you and other family members. For more information about the purpose, benefits and how to contact a genetic counsellor, please refer to the genetic counselling section.
Genetic counselling is defined as ‘a communication process which deals with human problems associated with the occurrence or the risk of occurrence, of a genetic disorder in a family’ (American Society of Human Genetics, 1975).
\r\n\r\n
What is the purpose of genetic counselling?
\r\n\r\n
Genetic counselling aims to help the individual or family:
\r\n\r\n
\r\n
understand the information about the genetic condition
\r\n
appreciate the inheritance pattern and risk of recurrence
\r\n
understand the options available
\r\n
make decisions appropriate to their personal and family situation
\r\n
make the best possible adjustment to the disorder or risk
\r\n
\r\n\r\n
What does genetic counselling include?
\r\n\r\n
Genetic counselling provides families at risk of or affected by genetic disorders with the information and support they need to make important decisions about genetic testing, screening and options for having children.
\r\n\r\n
With regards to making decisions, genetic counsellors do not ‘give advice’ or tell you what to do. They do explain all the possible scenarios and options available together with their pros and cons then support you in making the decision that is best for you.
\r\n\r\n
Genetic counselling is not a psychological therapy, however, counsellors are able to refer you on to further psychological support should there be a need and interest.
\r\n\r\n
When is genetic counselling appropriate?
\r\n\r\n
Genetic counselling may be appropriate for the following situations:
\r\n\r\n
\r\n
When considering having a genetic test
\r\n
After having carrier testing and finding out you are a carrier
If you are worried about a family history of a known genetic disorder, or a strong family history of another health problem, e.g. Cancer
\r\n
\r\n\r\n
What is the value of genetic counselling?
\r\n\r\n
Because genetic testing is a very personal decision with potentially many far-reaching consequences, it is helpful to discuss its impact beforehand with an informed, objective source.
\r\n\r\n
In addition, due to the rarity of most genetic disorders, many doctors (non-geneticists) may not recognise a genetic disorder or have much in-depth information about it. Discussing a genetic condition with a geneticist or a genetic counsellor can help determine a diagnosis, even when the majority of medical care is done by other specialists.
\r\n\r\n
How do I get referred to a Genetic Counsellor?
\r\n\r\n
If any of the above situations are relevant to you, you can ask your GP to you refer to your Regional Genetics Service. In the UK, Genetic counsellors work within the NHS in regional Clinical Genetics departments.
Genetic counselling is defined as ‘a communication process which deals with human problems associated with the occurrence or the risk of occurrence, of a genetic disorder in a family’ (American Society of Human Genetics, 1975).
\r\n\r\n
What is the purpose of genetic counselling?
\r\n\r\n
Genetic counselling aims to help the individual or family:
\r\n\r\n
\r\n
understand the information about the genetic condition
\r\n
appreciate the inheritance pattern and risk of recurrence
\r\n
understand the options available
\r\n
make decisions appropriate to their personal and family situation
\r\n
make the best possible adjustment to the disorder or risk
\r\n
\r\n\r\n
What does genetic counselling include?
\r\n\r\n
Genetic counselling provides families at risk of or affected by genetic disorders with the information and support they need to make important decisions about genetic testing, screening and options for having children.
\r\n\r\n
With regards to making decisions, genetic counsellors do not ‘give advice’ or tell you what to do. They do explain all the possible scenarios and options available together with their pros and cons then support you in making the decision that is best for you.
\r\n\r\n
Genetic counselling is not a psychological therapy, however, counsellors are able to refer you on to further psychological support should there be a need and interest.
\r\n\r\n
When is genetic counselling appropriate?
\r\n\r\n
Genetic counselling may be appropriate for the following situations:
\r\n\r\n
\r\n
When considering having a genetic test
\r\n
After having carrier testing and finding out you are a carrier
If you are worried about a family history of a known genetic disorder, or a strong family history of another health problem, e.g. Cancer
\r\n
\r\n\r\n
What is the value of genetic counselling?
\r\n\r\n
Because genetic testing is a very personal decision with potentially many far-reaching consequences, it is helpful to discuss its impact beforehand with an informed, objective source.
\r\n\r\n
In addition, due to the rarity of most genetic disorders, many doctors (non-geneticists) may not recognise a genetic disorder or have much in-depth information about it. Discussing a genetic condition with a geneticist or a genetic counsellor can help determine a diagnosis, even when the majority of medical care is done by other specialists.
\r\n\r\n
How do I get referred to a Genetic Counsellor?
\r\n\r\n
If any of the above situations are relevant to you, you can ask your GP to you refer to your Regional Genetics Service. In the UK, Genetic counsellors work within the NHS in regional Clinical Genetics departments.
Being a carrier of a recessive genetic disorder does not affect your own health because the one normal copy of the gene that you have compensates for the mutated copy. You can, however, pass the mutation on to your children. Children who inherit one copy of the mutated gene from one of their parents will be carriers. There is only a risk of a child being affected with the genetic disorder if they inherit the mutated gene from both parents.
\r\n\r\n
If you are a carrier of a recessive Jewish genetic disorder e.g. Tay Sachs disease, your partner (either now or in the future) should be tested. If you both carry a mutation in the same gene then there will be an increased risk of having an affected child.
\r\n\r\n
If your partner is not a carrier for the same recessive disorder, the risk of having an affected child will be very remote. There will, however, be a 1 in 2 chance of your child being a carrier, like yourself, but this will not affect their health.
\r\n\r\n
What if both partners are carriers of the same recessive disorder?
\r\n\r\n
Where both partners are carriers of the same disorder-causing mutation for a recessive condition, there will be a 1 in 4 chance of having an affected child.
\r\n\r\n
Given the serious nature of many Jewish genetic disorders, it is important to understand the implications of being a carrier couple. It is advisable to be referred to your regional genetics service where you can meet with a genetic counsellor to discuss the implications and options available that may reduce the risk of passing on a disorder should you be planning children.
\r\n\r\n
What is the significance of being a carrier of a dominant disorder?
\r\n\r\n
Although the term ‘carrier’ is commonly used in reference to recessive disorders, it can also be used in the context of dominant conditions. Dominant genetic disorders are those in which a mutation in just one copy of the gene pair is required for the disorder to develop.
Whether affected or not, an individual who carries the mutation for a dominant disorder has a 1 in 2 chance of passing the mutation onto their children - greatly increasing the risk of the children developing the disorder.
\r\n\r\n
Any individual who carries a mutation for a dominant disorder is advised to meet with a genetic counsellor to discuss the implications regarding their own health and that of their children.
\r\n\r\n
More information about recessive and dominant inheritance can be found in the introduction to genetics section.
\r\n\r\n
What options are available to people who are at risk of passing on a genetic disorder?
\r\n\r\n
A summary of the various options available for couples who are at risk of having a child affected with a recessive or dominant genetic disorder are outlined briefly below and can be explained further by a genetic counsellor:
\r\n\r\n
Prenatal Diagnosis (PND):
\r\n\r\n
Prenatal diagnosis, also known as prenatal testing, is performed during pregnancy to assess the health status of the foetus. The two main types of prenatal diagnostic tests are:
\r\n\r\n
\r\n
Chorionic villus sampling (CVS) involves removal and testing of cells from the early placenta (chorion) surrounding a developing foetus. It is performed at around the 12th week of pregnancy and results tend to take 1 to 2 weeks to process.
\r\n
Amniocentesis involves removing and testing of cells from the amniotic fluid that surrounds the developing foetus. It is performed from around the 15th week of pregnancy and results usually take up to 2 weeks to process, although for certain tests results can take longer.
\r\n
\r\n\r\n
The two tests differ in timing, process and risk of miscarriage, however, the genetic testing procedure on the extracted sample cells tends to be the same for both.
\r\n\r\n
If the results of the prenatal diagnosis find that the genetic disorder has been passed onto the foetus, further information and support are available to you from your genetic counsellor and also from an organisation called ARC (Antenatal results and choices).
\r\n\r\n
Pre-implantation Genetic Diagnosis (PGD):
\r\n\r\n
This is a technology which utilises in vitro fertilisation techniques (IVF or test-tube baby) to create an embryo in the laboratory using eggs and sperm collected from the couple. The embryos are tested for the gene in question, in order to identify the ones that will be affected with the genetic condition. Unaffected embryos can then be transferred into the womb, in the hope that a pregnancy will result which will not develop the genetic condition tested for.
\r\n\r\n
In the UK there are a small number of centres that offer PGD treatment, see the HFEA website for details. Before being referred to a PGD clinic you should be referred to your regional genetics service to discuss all the options fully.
\r\n\r\n
Donor Gametes:
\r\n\r\n
If both members of the couple are carriers then another way to avoid having an affected child is to use a sperm or egg from a donor individual who is not a carrier.
\r\n\r\n
Adoption:
\r\n\r\n
Some couples who are at risk of having a child with a genetic condition decide to adopt children thereby removing the chance that they will pass the disorder onto their children.
\r\n\r\n
No (more) children:
\r\n\r\n
In some situations couples feel that none of the above options are appropriate for them, and so they decide not to have children, or not to extend their family if they already have children.
Being a carrier of a recessive genetic disorder does not affect your own health because the one normal copy of the gene that you have compensates for the mutated copy. You can, however, pass the mutation on to your children. Children who inherit one copy of the mutated gene from one of their parents will be carriers. There is only a risk of a child being affected with the genetic disorder if they inherit the mutated gene from both parents.
\r\n\r\n
If you are a carrier of a recessive Jewish genetic disorder e.g. Tay Sachs disease, your partner (either now or in the future) should be tested. If you both carry a mutation in the same gene then there will be an increased risk of having an affected child.
\r\n\r\n
If your partner is not a carrier for the same recessive disorder, the risk of having an affected child will be very remote. There will, however, be a 1 in 2 chance of your child being a carrier, like yourself, but this will not affect their health.
\r\n\r\n
What if both partners are carriers of the same recessive disorder?
\r\n\r\n
Where both partners are carriers of the same disorder-causing mutation for a recessive condition, there will be a 1 in 4 chance of having an affected child.
\r\n\r\n
Given the serious nature of many Jewish genetic disorders, it is important to understand the implications of being a carrier couple. It is advisable to be referred to your regional genetics service where you can meet with a genetic counsellor to discuss the implications and options available that may reduce the risk of passing on a disorder should you be planning children.
\r\n\r\n
What is the significance of being a carrier of a dominant disorder?
\r\n\r\n
Although the term ‘carrier’ is commonly used in reference to recessive disorders, it can also be used in the context of dominant conditions. Dominant genetic disorders are those in which a mutation in just one copy of the gene pair is required for the disorder to develop.
Whether affected or not, an individual who carries the mutation for a dominant disorder has a 1 in 2 chance of passing the mutation onto their children - greatly increasing the risk of the children developing the disorder.
\r\n\r\n
Any individual who carries a mutation for a dominant disorder is advised to meet with a genetic counsellor to discuss the implications regarding their own health and that of their children.
\r\n\r\n
More information about recessive and dominant inheritance can be found in the introduction to genetics section.
\r\n\r\n
What options are available to people who are at risk of passing on a genetic disorder?
\r\n\r\n
A summary of the various options available for couples who are at risk of having a child affected with a recessive or dominant genetic disorder are outlined briefly below and can be explained further by a genetic counsellor:
\r\n\r\n
Prenatal Diagnosis (PND):
\r\n\r\n
Prenatal diagnosis, also known as prenatal testing, is performed during pregnancy to assess the health status of the foetus. The two main types of prenatal diagnostic tests are:
\r\n\r\n
\r\n
Chorionic villus sampling (CVS) involves removal and testing of cells from the early placenta (chorion) surrounding a developing foetus. It is performed at around the 12th week of pregnancy and results tend to take 1 to 2 weeks to process.
\r\n
Amniocentesis involves removing and testing of cells from the amniotic fluid that surrounds the developing foetus. It is performed from around the 15th week of pregnancy and results usually take up to 2 weeks to process, although for certain tests results can take longer.
\r\n
\r\n\r\n
The two tests differ in timing, process and risk of miscarriage, however, the genetic testing procedure on the extracted sample cells tends to be the same for both.
\r\n\r\n
If the results of the prenatal diagnosis find that the genetic disorder has been passed onto the foetus, further information and support are available to you from your genetic counsellor and also from an organisation called ARC (Antenatal results and choices).
\r\n\r\n
Pre-implantation Genetic Diagnosis (PGD):
\r\n\r\n
This is a technology which utilises in vitro fertilisation techniques (IVF or test-tube baby) to create an embryo in the laboratory using eggs and sperm collected from the couple. The embryos are tested for the gene in question, in order to identify the ones that will be affected with the genetic condition. Unaffected embryos can then be transferred into the womb, in the hope that a pregnancy will result which will not develop the genetic condition tested for.
\r\n\r\n
In the UK there are a small number of centres that offer PGD treatment, see the HFEA website for details. Before being referred to a PGD clinic you should be referred to your regional genetics service to discuss all the options fully.
\r\n\r\n
Donor Gametes:
\r\n\r\n
If both members of the couple are carriers then another way to avoid having an affected child is to use a sperm or egg from a donor individual who is not a carrier.
\r\n\r\n
Adoption:
\r\n\r\n
Some couples who are at risk of having a child with a genetic condition decide to adopt children thereby removing the chance that they will pass the disorder onto their children.
\r\n\r\n
No (more) children:
\r\n\r\n
In some situations couples feel that none of the above options are appropriate for them, and so they decide not to have children, or not to extend their family if they already have children.
For individuals of Jewish origin, there are a number of ways in which Tay-Sachs carrier testing can be accessed on the NHS. The main service options are outlined below and further details for each can be found by clicking on the relevant links:
\r\n\r\n
\r\n
Guy’s Hospital, London – runs a walk-in clinic for Tay-Sachs disease screening on Monday mornings (except Bank holidays) between 9.30am and 11am. The service is free and no referral or appointment is needed.
\r\n\r\n
Barnet General Hospital, London – offer carrier testing on a Thursday mornings between 9am and 10am. The service is by appointment only and can be booked online by clicking the link above.
\r\n\r\n
In addition, wherever you live in the UK, you can ask your GP to refer you to your Regional Genetics Service to arrange screening for Tay Sachs.
\r\n\r\n
Alternatively, your GP may be willing to take your blood and send it to the Guy’s Hospital laboratory for screening. For this, they would need to contact the Guy’s Genetics department to check sample and postage requirements.
\r\n\r\n
Jnetics screening services include two screening clinics run in partnership with the NHS. These are the Barnet Clinic for those based in London and the Virtual Clinic for those living outside of London. Participation in these allows you to find out if you are a of Tay-Sachs disease as well as 8 other severe recessive disorders. Although this service is run in partnership with the NHS, since NHS funding is not available for the other 8 conditions, this subsidised service costs £190.
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If you are not Jewish but have a history of Tay-Sachs disease in your family, your GP can refer you to a Regional Genetics Service for carrier testing covered by the NHS.
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There is also the option of having private carrier testing for Tay-Sachs disease. Details of these private options can be found in the section carrier testing for other JGDs.
For individuals of Jewish origin, there are a number of ways in which Tay-Sachs carrier testing can be accessed on the NHS. The main service options are outlined below and further details for each can be found by clicking on the relevant links:
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Guy’s Hospital, London – runs a walk-in clinic for Tay-Sachs disease screening on Monday mornings (except Bank holidays) between 9.30am and 11am. The service is free and no referral or appointment is needed.
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Barnet General Hospital, London – offer carrier testing on a Thursday mornings between 9am and 10am. The service is by appointment only and can be booked online by clicking the link above.
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In addition, wherever you live in the UK, you can ask your GP to refer you to your Regional Genetics Service to arrange screening for Tay Sachs.
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Alternatively, your GP may be willing to take your blood and send it to the Guy’s Hospital laboratory for screening. For this, they would need to contact the Guy’s Genetics department to check sample and postage requirements.
\r\n\r\n
Jnetics screening services include two screening clinics run in partnership with the NHS. These are the Barnet Clinic for those based in London and the Virtual Clinic for those living outside of London. Participation in these allows you to find out if you are a of Tay-Sachs disease as well as 8 other severe recessive disorders. Although this service is run in partnership with the NHS, since NHS funding is not available for the other 8 conditions, this subsidised service costs £190.
\r\n
\r\n\r\n
If you are not Jewish but have a history of Tay-Sachs disease in your family, your GP can refer you to a Regional Genetics Service for carrier testing covered by the NHS.
\r\n\r\n
There is also the option of having private carrier testing for Tay-Sachs disease. Details of these private options can be found in the section carrier testing for other JGDs.
Genetic testing refers to any testing procedure used to detect the presence or absence of, or a change in, a particular gene or chromosome.
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There are a number of different circumstances under which genetic testing may be offered. For example, testing can be used to confirm whether a person has or is likely to develop a genetic disorder, or if he or she is at risk of passing a genetic condition onto their children.
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When is genetic testing used?
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Genetic testing is used for a number of different purposes. Tests are referred to differently accordingly to their purpose and context, however, the laboratory procedures used across the various tests are often exactly the same.
Diagnostic testing – generally used to help diagnose a genetic condition in a person who is already exhibiting symptoms suggestive of a particular disorder.
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Carrier testing - used to test whether or not a person carries one copy of a disorder-causing gene. Carrier testing is offered to individuals who, though usually unaffected by a particular disorder themselves, are at risk of passing it on to their children given their family history or ethnicity.
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Prenatal testing – used with pregnant women to determine whether or not the foetus is affected by, or at risk of being affected by, a genetic condition.
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Predictive testing – used to identify the presence of a specific mutation for a genetic disorder in a person who does not have symptoms but is at risk of developing the disorder later in life.
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More information about each of these tests can be accessed by clicking on the relevant tabs in the side menu bar.
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What is genetic screening?
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Often the terms ‘screening’ and ‘testing’ are used interchangeably, even though they are not the same. The following descriptions help to highlight the differences between the two processes.
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Carrier screening is a process of systematically offering a carrier test to a whole population (or sub-population) of healthy people, for a gene mutation that is known to be common in that group.
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Carrier testing refers to the tests that an individual would have, which may form part of a population screening process.
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More information about carrier screening and testing for Jewish genetic disorders, genetic counselling, and information for carriers can be accessed by clicking on the relevant side menu tabs. Throughout all the materials there are a number of links that can be clicked on to view further information and support.
This refers to a genetic test used to help confirm or rule out a suspected genetic condition in a person who is showing symptoms.
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Someone may be offered diagnostic genetic testing if they were exhibiting symptoms that suggested a specific genetic condition. This type of testing can be carried out on individuals of any age to help establish a diagnosis.
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How can diagnostic testing be arranged?
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If a doctor suspects that a person’s health problems are as a result of a genetic disorder, they can arrange for genetic testing to be performed to clarify the diagnosis. Diagnostic testing may also be arranged by a specialist e.g. a paediatrician who would send a blood sample to a genetics laboratory or by a clinical geneticist (a doctor specialising in diagnosing genetic conditions) who would organise the appropriate genetic testing directly.
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Things to consider prior to having diagnostic testing
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Diagnostic testing has the benefit of confirming a diagnosis and so can help an individual to access the appropriate medical management for their condition. It is important to remember, however, that establishing a diagnosis in an individual may have implications for other family members as well.
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When considering having diagnostic genetic testing, it is important to meet with a genetic counsellor who will help explain the varied implications for you and other family members. For more information about the purpose, benefits and how to contact a genetic counsellor, please refer to the genetic counselling section.
A genetic disorder is a condition that is caused by an abnormality in an individual’s DNA. Lots of different disorders are now known to be caused by this, and more are being described all the time.
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What are Jewish genetic disorders?
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These are genetic disorders which are more common in people who have Jewish ancestry than in the general population. This does not mean that only Jewish people are affected, but it does mean that people who are Jewish, or are of Jewish descent, have an increased risk of having one of these conditions.
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Why are certain disorders more common among Jewish people?
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Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities. A small number of people over many, many generations can pass on a DNA abnormality within an ethnic community, even when that community is no longer small and isolated. For this reason, most ethnic groups have genetic disorders which are more common in that population than in the rest of the world.
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How many Jewish genetic disorders are there?
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The answer is changing all the time as new discoveries are made. At the moment, scientists and doctors have studied and identified in detail over 30 conditions which are particularly relevant to people who have Jewish ancestry. Some particularly affect those of Sephardi ancestry and some particularly affect those of Ashkenazi ancestry.
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Do all Jewish people have the same likelihood of having these disorders?
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Jewish people can usually trace their origins back to either Ashkenazi or Sephardi roots, or to both. Ashkenazi Jews are at risk from a different group of genetic disorders than those affecting Sephardi Jews.
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Sephardi disorders also tend to be specific to community of birth and do not affect all Sephardi Jews to the same extent. This means that disorders that are more common among Sephardi Jews from one region e.g. Tunisia tend to differ from those that are more common among Sephardi Jews from other areas e.g. Syria and Morocco.
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How are these disorders inherited?
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Most Jewish genetic disorders are inherited in a recessive way. This means that both parents need to be a ‘carrier’ of the same condition in order for there to be an increased chance of their children being affected.
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With recessive genetic disorders, ‘carriers’ are not themselves affected by the condition. As such, affected children can often be born to families that have no other known cases of the genetic condition among their relatives.
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A few of the disorders are inherited in a dominant way. This means that only one parent needs to be a ‘carrier’ of a disorder in order for there to be an increased chance of their child being affected. With dominant conditions, the parent ‘carrier’ may or may not be themselves affected by the condition.
This section contains three resource areas that include links to information and support relevant to the different Jewish genetic disorders covered by Jnetics.
Links to resources that relate to specific disorders e.g. if you are particularly interested in Gaucher disease – you will find details of the Gauchers Association UK and other groups that offer specialised information and support for this condition.
Links to umbrella groups that provide general information and support for a wide spectrum of genetic conditions, including Jewish genetic disorders – particularly useful for conditions that have no dedicated patient group themselves e.g. Canavan disease.
Links to key international resources dedicated to promoting awareness, screening and/or research into Jewish genetic disorders e.g. Chicago Center for Jewish Genetic Disorders.
This section contains three resource areas that include links to information and support relevant to the different Jewish genetic disorders covered by Jnetics.
Links to resources that relate to specific disorders e.g. if you are particularly interested in Gaucher disease – you will find details of the Gauchers Association UK and other groups that offer specialised information and support for this condition.
Links to umbrella groups that provide general information and support for a wide spectrum of genetic conditions, including Jewish genetic disorders – particularly useful for conditions that have no dedicated patient group themselves e.g. Canavan disease.
Links to key international resources dedicated to promoting awareness, screening and/or research into Jewish genetic disorders e.g. Chicago Center for Jewish Genetic Disorders.
This section contains three resource areas that include links to information and support relevant to the different Jewish genetic disorders covered by Jnetics.
Links to resources that relate to specific disorders e.g. if you are particularly interested in Gaucher disease – you will find details of the Gauchers Association UK and other groups that offer specialised information and support for this condition.
Links to umbrella groups that provide general information and support for a wide spectrum of genetic conditions, including Jewish genetic disorders – particularly useful for conditions that have no dedicated patient group themselves e.g. Canavan disease.
Links to key international resources dedicated to promoting awareness, screening and/or research into Jewish genetic disorders e.g. Chicago Center for Jewish Genetic Disorders.
This section includes links to genetic testing services for Tay-Sachs disease and other Jewish genetic disorders; and counselling services that offer support for people dealing with a range of issues relating to genetic conditions. \r\n
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Please click on the titles to open and close the following information sections.
The Clinical Genetics Department runs a walk-in clinic for Tay Sachs disease screening on Monday mornings (except Bank holidays) between 9.30am and 11am. The service is free and no referral or appointment is needed.
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Genetics Clinic, 7th Floor Borough Wing, Guy’s Hospital, Great Maze Pond, London SE1 9RT \r\nTelephone: 020 7188 1364
Within the framework of the existing walk-in clinic, Guy’s and St Thomas’ Hospital are now piloting a new self-funded (private) service that tests for 9 recessive disorders – including Tay-Sachs. Details about this service can be found on their website or by phoning the clinic, or on the ‘Guy’s Carrier Testing Service’ link on our website.
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Genetics Clinic, 7th Floor Borough Wing, Guy’s Hospital, Great Maze Pond, London SE1 9RT. Telephone: 020 7188 1364
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In addition to the service at Guy’s and Barnet Hospital, there are a number of other private testing options that cover a range of Jewish genetic disorders. Inclusion of these private options by Jnetics does not represent an endorsement of their services.
Dor Yeshorim is an international genetic screening organisation established within the Orthodox Jewish community to prevent Jewish genetic disorders. They offer testing for 9 recessive disorders (plus Gaucher Disease on request) to unmarried, previously un-tested individuals who intend to find a spouse by arranged marriage. Results are not supplied but a PIN number is given and checked against that of a potential spouse to assess compatibility. Local centres in the UK can be contacted without referral to find out details of their private screening.
TDL is the largest independent provider of clinical laboratory diagnostic services in the UK. It offers testing for 9 recessive Ashkenazi Jewish genetic disorders (plus Gaucher disease and other on request and at extra cost). The private screening service is available to anyone and results are given directly to the individuals being tested.
This commercial company, previously the Leeds Screening Centre, offers a wide range of health screening and ultrasound imaging facilities direct to the public. Their Alef8 genetic screening service provides a DNA test for 8 recessive genetic disorders that are of particular relevance to Ashkenazi Jews.
This website, of the British Society for Genetic Medicine (BSGM), provides a directory of UK genetic centres. The BSGM is an independent body representing UK genetics professionals. \r\nUsing the directory, your local genetic centre can be identified and contacted to arrange a meeting with one of their genetic counsellors.
BACP members are individuals and organisations concerned with counselling in a variety of settings. The organisation publishes directories of counselling services and will refer enquirers to a local counsellor free of charge.
ARC is the only national charity which provides non-directive support and information to expectant and bereaved parents throughout and after the antenatal screening and testing process.
This charity helps bereaved children and their families to get the best possible help, recognition and understanding following their loss. They provide information, signposting and a helpline, and can provide counselling via children’s workshops, one-to-one or for the whole family and also offer consultancy work to inform and empower professionals.
HFEA is a non-departmental Government body that regulates and inspects all UK clinics providing IVF, donor insemination or the storage of eggs, sperm or embryos. It licenses and provides information on UK fertility clinics and centres carrying out in vitro fertilisation (IVF), other assisted conception procedures and human embryo research.
This section includes links to genetic testing services for Tay-Sachs disease and other Jewish genetic disorders; and counselling services that offer support for people dealing with a range of issues relating to genetic conditions. \r\n
\r\n\r\n
Please click on the titles to open and close the following information sections.
The Clinical Genetics Department runs a walk-in clinic for Tay Sachs disease screening on Monday mornings (except Bank holidays) between 9.30am and 11am. The service is free and no referral or appointment is needed.
\r\n\r\n
Genetics Clinic, 7th Floor Borough Wing, Guy’s Hospital, Great Maze Pond, London SE1 9RT \r\nTelephone: 020 7188 1364
Within the framework of the existing walk-in clinic, Guy’s and St Thomas’ Hospital are now piloting a new self-funded (private) service that tests for 9 recessive disorders – including Tay-Sachs. Details about this service can be found on their website or by phoning the clinic, or on the ‘Guy’s Carrier Testing Service’ link on our website.
\r\n\r\n
Genetics Clinic, 7th Floor Borough Wing, Guy’s Hospital, Great Maze Pond, London SE1 9RT. Telephone: 020 7188 1364
\r\n\r\n
In addition to the service at Guy’s and Barnet Hospital, there are a number of other private testing options that cover a range of Jewish genetic disorders. Inclusion of these private options by Jnetics does not represent an endorsement of their services.
Dor Yeshorim is an international genetic screening organisation established within the Orthodox Jewish community to prevent Jewish genetic disorders. They offer testing for 9 recessive disorders (plus Gaucher Disease on request) to unmarried, previously un-tested individuals who intend to find a spouse by arranged marriage. Results are not supplied but a PIN number is given and checked against that of a potential spouse to assess compatibility. Local centres in the UK can be contacted without referral to find out details of their private screening.
TDL is the largest independent provider of clinical laboratory diagnostic services in the UK. It offers testing for 9 recessive Ashkenazi Jewish genetic disorders (plus Gaucher disease and other on request and at extra cost). The private screening service is available to anyone and results are given directly to the individuals being tested.
This commercial company, previously the Leeds Screening Centre, offers a wide range of health screening and ultrasound imaging facilities direct to the public. Their Alef8 genetic screening service provides a DNA test for 8 recessive genetic disorders that are of particular relevance to Ashkenazi Jews.
This website, of the British Society for Genetic Medicine (BSGM), provides a directory of UK genetic centres. The BSGM is an independent body representing UK genetics professionals. \r\nUsing the directory, your local genetic centre can be identified and contacted to arrange a meeting with one of their genetic counsellors.
BACP members are individuals and organisations concerned with counselling in a variety of settings. The organisation publishes directories of counselling services and will refer enquirers to a local counsellor free of charge.
ARC is the only national charity which provides non-directive support and information to expectant and bereaved parents throughout and after the antenatal screening and testing process.
This charity helps bereaved children and their families to get the best possible help, recognition and understanding following their loss. They provide information, signposting and a helpline, and can provide counselling via children’s workshops, one-to-one or for the whole family and also offer consultancy work to inform and empower professionals.
HFEA is a non-departmental Government body that regulates and inspects all UK clinics providing IVF, donor insemination or the storage of eggs, sperm or embryos. It licenses and provides information on UK fertility clinics and centres carrying out in vitro fertilisation (IVF), other assisted conception procedures and human embryo research.
Camp Simcha exists to improve the quality of life of children suffering from Cancer or other life threatening illnesses. Their services include support for parents, support for siblings, family outings and parties, summer day camp, big brother/sister volunteers, respite care programme, hospital transport, family retreat and children’s retreat.
Chai is the Jewish community’s cancer support organisation that provides many services including counselling, therapies, complementary therapies, helpline, social and physical activities, advocacy and advice and expert lectures. Services are available to patients, families and friends from their Hendon base, Redbridge, South London, and Greater Manchester.
Chana is a charity that helps people in the Jewish community understand and deal with the challenges of infertility. It provides specialist medical support and information, confidential counseling and helpline, a well-woman service, lectures, resources and a buddy scheme.
The JMC is a not-for-profit organisation set up to provide sensitive support for Jewish individuals, couples and families. Services offered by JMC include: counselling, various advice services, courses and workshops, and a professional personalised introduction agency.
JVN is the one stop shop for Jewish volunteering, working across the community and throughout the UK with individuals and organisations. JVN promotes volunteering and matches people who want to volunteer with volunteering opportunities. One of their initiatives, called the Gateway Project, aims to involve everyone in volunteering, no matter what their personal barriers are. Through the Gateway Project the JVN matches people with physical disabilities or people with a mental health challenge or learning disability with a suitable volunteering opportunity.
Jweb is an on-line guide to what’s available and what’s happening for people with learning disabilities in the Jewish community. They list organisations, professionals and events throughout the UK. They also offer forums and information packs.
Norwood provides support to people with learning disabilities, and children and families dealing with disadvantage, helping them to improve the quality of their lives and achieve their goals. They offer a broad range of support and services through their Children and Family Centres. These services include toy libraries, mother and toddler groups, therapy rooms and counselling.
Has an on-line forum aimed specifically at the Jewish community to help those at risk of developing the disease due to the BRCA1 and BRCA2 gene mutations prevalent in the Ashkenazi population.
Camp Simcha exists to improve the quality of life of children suffering from Cancer or other life threatening illnesses. Their services include support for parents, support for siblings, family outings and parties, summer day camp, big brother/sister volunteers, respite care programme, hospital transport, family retreat and children’s retreat.
Chai is the Jewish community’s cancer support organisation that provides many services including counselling, therapies, complementary therapies, helpline, social and physical activities, advocacy and advice and expert lectures. Services are available to patients, families and friends from their Hendon base, Redbridge, South London, and Greater Manchester.
Chana is a charity that helps people in the Jewish community understand and deal with the challenges of infertility. It provides specialist medical support and information, confidential counseling and helpline, a well-woman service, lectures, resources and a buddy scheme.
The JMC is a not-for-profit organisation set up to provide sensitive support for Jewish individuals, couples and families. Services offered by JMC include: counselling, various advice services, courses and workshops, and a professional personalised introduction agency.
JVN is the one stop shop for Jewish volunteering, working across the community and throughout the UK with individuals and organisations. JVN promotes volunteering and matches people who want to volunteer with volunteering opportunities. One of their initiatives, called the Gateway Project, aims to involve everyone in volunteering, no matter what their personal barriers are. Through the Gateway Project the JVN matches people with physical disabilities or people with a mental health challenge or learning disability with a suitable volunteering opportunity.
Jweb is an on-line guide to what’s available and what’s happening for people with learning disabilities in the Jewish community. They list organisations, professionals and events throughout the UK. They also offer forums and information packs.
Norwood provides support to people with learning disabilities, and children and families dealing with disadvantage, helping them to improve the quality of their lives and achieve their goals. They offer a broad range of support and services through their Children and Family Centres. These services include toy libraries, mother and toddler groups, therapy rooms and counselling.
Has an on-line forum aimed specifically at the Jewish community to help those at risk of developing the disease due to the BRCA1 and BRCA2 gene mutations prevalent in the Ashkenazi population.
Genetic testing refers to any testing procedure used to detect the presence or absence of, or a change in, a particular gene or chromosome.
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There are a number of different circumstances under which genetic testing may be offered. For example, testing can be used to confirm whether a person has or is likely to develop a genetic disorder, or if he or she is at risk of passing a genetic condition onto their children.
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When is genetic testing used?
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Genetic testing is used for a number of different purposes. Tests are referred to differently accordingly to their purpose and context, however, the laboratory procedures used across the various tests are often exactly the same.
Diagnostic testing – generally used to help diagnose a genetic condition in a person who is already exhibiting symptoms suggestive of a particular disorder.
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Carrier testing - used to test whether or not a person carries one copy of a disorder-causing gene. Carrier testing is offered to individuals who, though usually unaffected by a particular disorder themselves, are at risk of passing it on to their children given their family history or ethnicity.
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Prenatal testing – used with pregnant women to determine whether or not the foetus is affected by, or at risk of being affected by, a genetic condition.
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Predictive testing – used to identify the presence of a specific mutation for a genetic disorder in a person who does not have symptoms but is at risk of developing the disorder later in life.
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More information about each of these tests can be accessed by clicking on the relevant tabs in the side menu bar.
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What is genetic screening?
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Often the terms ‘screening’ and ‘testing’ are used interchangeably, even though they are not the same. The following descriptions help to highlight the differences between the two processes.
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Carrier screening is a process of systematically offering a carrier test to a whole population (or sub-population) of healthy people, for a gene mutation that is known to be common in that group.
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Carrier testing refers to the tests that an individual would have, which may form part of a population screening process.
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More information about carrier screening and testing for Jewish genetic disorders, genetic counselling, and information for carriers can be accessed by clicking on the relevant side menu tabs. Throughout all the materials there are a number of links that can be clicked on to view further information and support.
Genetic counselling is defined as ‘a communication process which deals with human problems associated with the occurrence or the risk of occurrence, of a genetic disorder in a family’ (American Society of Human Genetics, 1975).
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What is the purpose of genetic counselling?
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Genetic counselling aims to help the individual or family:
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understand the information about the genetic condition
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appreciate the inheritance pattern and risk of recurrence
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understand the options available
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make decisions appropriate to their personal and family situation
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make the best possible adjustment to the disorder or risk
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What does genetic counselling include?
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Genetic counselling provides families at risk of or affected by genetic disorders with the information and support they need to make important decisions about genetic testing, screening and options for having children.
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With regards to making decisions, genetic counsellors do not ‘give advice’ or tell you what to do. They do explain all the possible scenarios and options available together with their pros and cons then support you in making the decision that is best for you.
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Genetic counselling is not a psychological therapy, however, counsellors are able to refer you on to further psychological support should there be a need and interest.
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When is genetic counselling appropriate?
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Genetic counselling may be appropriate for the following situations:
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When considering having a genetic test
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After having carrier testing and finding out you are a carrier
If you are worried about a family history of a known genetic disorder, or a strong family history of another health problem, e.g. Cancer
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What is the value of genetic counselling?
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Because genetic testing is a very personal decision with potentially many far-reaching consequences, it is helpful to discuss its impact beforehand with an informed, objective source.
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In addition, due to the rarity of most genetic disorders, many doctors (non-geneticists) may not recognise a genetic disorder or have much in-depth information about it. Discussing a genetic condition with a geneticist or a genetic counsellor can help determine a diagnosis, even when the majority of medical care is done by other specialists.
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How do I get referred to a Genetic Counsellor?
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If any of the above situations are relevant to you, you can ask your GP to you refer to your Regional Genetics Service. In the UK, Genetic counsellors work within the NHS in regional Clinical Genetics departments.
Being a carrier of a recessive genetic disorder does not affect your own health because the one normal copy of the gene that you have compensates for the mutated copy. You can, however, pass the mutation on to your children. Children who inherit one copy of the mutated gene from one of their parents will be carriers. There is only a risk of a child being affected with the genetic disorder if they inherit the mutated gene from both parents.
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If you are a carrier of a recessive Jewish genetic disorder e.g. Tay Sachs disease, your partner (either now or in the future) should be tested. If you both carry a mutation in the same gene then there will be an increased risk of having an affected child.
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If your partner is not a carrier for the same recessive disorder, the risk of having an affected child will be very remote. There will, however, be a 1 in 2 chance of your child being a carrier, like yourself, but this will not affect their health.
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What if both partners are carriers of the same recessive disorder?
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Where both partners are carriers of the same disorder-causing mutation for a recessive condition, there will be a 1 in 4 chance of having an affected child.
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Given the serious nature of many Jewish genetic disorders, it is important to understand the implications of being a carrier couple. It is advisable to be referred to your regional genetics service where you can meet with a genetic counsellor to discuss the implications and options available that may reduce the risk of passing on a disorder should you be planning children.
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What is the significance of being a carrier of a dominant disorder?
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Although the term ‘carrier’ is commonly used in reference to recessive disorders, it can also be used in the context of dominant conditions. Dominant genetic disorders are those in which a mutation in just one copy of the gene pair is required for the disorder to develop.
Whether affected or not, an individual who carries the mutation for a dominant disorder has a 1 in 2 chance of passing the mutation onto their children - greatly increasing the risk of the children developing the disorder.
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Any individual who carries a mutation for a dominant disorder is advised to meet with a genetic counsellor to discuss the implications regarding their own health and that of their children.
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More information about recessive and dominant inheritance can be found in the introduction to genetics section.
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What options are available to people who are at risk of passing on a genetic disorder?
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A summary of the various options available for couples who are at risk of having a child affected with a recessive or dominant genetic disorder are outlined briefly below and can be explained further by a genetic counsellor:
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Prenatal Diagnosis (PND):
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Prenatal diagnosis, also known as prenatal testing, is performed during pregnancy to assess the health status of the foetus. The two main types of prenatal diagnostic tests are:
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Chorionic villus sampling (CVS) involves removal and testing of cells from the early placenta (chorion) surrounding a developing foetus. It is performed at around the 12th week of pregnancy and results tend to take 1 to 2 weeks to process.
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Amniocentesis involves removing and testing of cells from the amniotic fluid that surrounds the developing foetus. It is performed from around the 15th week of pregnancy and results usually take up to 2 weeks to process, although for certain tests results can take longer.
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The two tests differ in timing, process and risk of miscarriage, however, the genetic testing procedure on the extracted sample cells tends to be the same for both.
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If the results of the prenatal diagnosis find that the genetic disorder has been passed onto the foetus, further information and support are available to you from your genetic counsellor and also from an organisation called ARC (Antenatal results and choices).
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Pre-implantation Genetic Diagnosis (PGD):
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This is a technology which utilises in vitro fertilisation techniques (IVF or test-tube baby) to create an embryo in the laboratory using eggs and sperm collected from the couple. The embryos are tested for the gene in question, in order to identify the ones that will be affected with the genetic condition. Unaffected embryos can then be transferred into the womb, in the hope that a pregnancy will result which will not develop the genetic condition tested for.
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In the UK there are a small number of centres that offer PGD treatment, see the HFEA website for details. Before being referred to a PGD clinic you should be referred to your regional genetics service to discuss all the options fully.
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Donor Gametes:
\r\n\r\n
If both members of the couple are carriers then another way to avoid having an affected child is to use a sperm or egg from a donor individual who is not a carrier.
\r\n\r\n
Adoption:
\r\n\r\n
Some couples who are at risk of having a child with a genetic condition decide to adopt children thereby removing the chance that they will pass the disorder onto their children.
\r\n\r\n
No (more) children:
\r\n\r\n
In some situations couples feel that none of the above options are appropriate for them, and so they decide not to have children, or not to extend their family if they already have children.
For individuals of Jewish origin, there are a number of ways in which Tay-Sachs carrier testing can be accessed on the NHS. The main service options are outlined below and further details for each can be found by clicking on the relevant links:
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Guy’s Hospital, London – runs a walk-in clinic for Tay-Sachs disease screening on Monday mornings (except Bank holidays) between 9.30am and 11am. The service is free and no referral or appointment is needed.
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Barnet General Hospital, London – offer carrier testing on a Thursday mornings between 9am and 10am. The service is by appointment only and can be booked online by clicking the link above.
\r\n\r\n
In addition, wherever you live in the UK, you can ask your GP to refer you to your Regional Genetics Service to arrange screening for Tay Sachs.
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Alternatively, your GP may be willing to take your blood and send it to the Guy’s Hospital laboratory for screening. For this, they would need to contact the Guy’s Genetics department to check sample and postage requirements.
\r\n\r\n
Jnetics screening services include two screening clinics run in partnership with the NHS. These are the Barnet Clinic for those based in London and the Virtual Clinic for those living outside of London. Participation in these allows you to find out if you are a of Tay-Sachs disease as well as 8 other severe recessive disorders. Although this service is run in partnership with the NHS, since NHS funding is not available for the other 8 conditions, this subsidised service costs £190.
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If you are not Jewish but have a history of Tay-Sachs disease in your family, your GP can refer you to a Regional Genetics Service for carrier testing covered by the NHS.
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There is also the option of having private carrier testing for Tay-Sachs disease. Details of these private options can be found in the section carrier testing for other JGDs.
We focus primarily on genetic conditions affecting people with Ashkenazi Jewish ancestry. These conditions fall into two categories: a) ‘Higher prevalence ‘Jewish genetic disorders and b) Disorders with higher prevalence ‘Jewish’ mutations.
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a) Higher prevalence ‘Jewish’ genetic disorders:
\r\n\r\n
These are a very specific group of genetic conditions which are more common among people with Ashkenazi Jewish ancestry relative to the general population, and include:
b) Disorders with higher prevalence ‘Jewish’ mutations:
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We also focus on a group of conditions in which lots of different mutations can be behind the same disorder. The disorder itself is not more common among people of Ashkenazi Jewish ancestry, but a specific mutation or set of mutations are.
Cystic fibrosis may be somewhat less frequent in the Jewish population, but the frequency of certain mutations is increased. Breast and ovarian cancer is thought to be somewhat more frequent in the Jewish population and the frequency of at least three mutations in the BRCA 1 and 2 genes is increased.
\r\nDoes Jnetics cover disorders that affect the Sephardi community?
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People of Sephardi Jewish ancestry are at risk from a different group of genetic disorders than those affecting Ashkenazi Jews. Most of the disorders are specific to community of birth and do not affect all Sephardi Jewish people to the same extent.
\r\n\r\n
Jnetics covers one disorder – Familial Mediterranean Fever - that is of relevance to both Sephardi Jews as well as people of Ashkenazi Jewish origin. Information about a wide range of Sephardi disorders can be accessed through a link found in the Sephardi section. Jnetics hopes in the future to have the resources to expand this section further
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Will the spectrum of disorders covered expand in the future?
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It is very likely that new research will identify additional disorders that are especially relevant to the Jewish community, both Ashkenazi and Sephardi.
\r\n\r\n
Jnetics is monitoring research developments and, given the necessary resources, will include other genetic disorders over time that are of particular significance and of interest to the Jewish community.
Cancer is a group of diseases that can affect any part of the body, and involves the rapid creation of abnormal cells that grow beyond their usual boundaries. These cells can invade adjoining parts of the body and spread to other organs.
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Cancers occur when genetic changes known as ‘mutations’ within the DNA, cause the cells in the body to behave abnormally. Mutations may cause a cell to divide and grow uncontrollably, leading to ‘malignant’ tumours. These tumours spread to other sites in the body where they grow and replace normal tissue, which can be life-threatening.
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Cancers are named based on the part of the body in which they were first identified, regardless of where in the body they spread. For example, breast cancer that spreads to the liver is still classified as breast cancer and not as liver cancer.
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What is hereditary cancer?
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Cancer can be hereditary or non-hereditary. Hereditary cancers are passed down in families and occur when a cancer-causing mutation is passed on to an individual’s children. Non-hereditary cancers occur independently of family history. This website focuses only on hereditary cancers. For information on non-hereditary cancers, the Cancer Research UK website is a useful resource.
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If a person inherits a cancer-causing mutation from a parent, it does not mean that they will definitely develop cancer during their lifetime, however, they will be at increased risk compared to the rest of the population. This is known as having a genetic predisposition to cancer. The reason that being predisposed does not necessarily mean that cancer will develop is due to the many other environmental and genetic factors that need to be in place for cancer to occur. Hereditary cancers sometimes can skip generations. For example, although a parent and child may share a cancer-causing mutation, it is possible that the parent will never develop cancer whilst the child does. \r\n \r\nHereditary cancers tend to affect multiple members of the same family including both immediate family members such as siblings and parents and non-immediate family members such as aunts or cousins. It is not unusual to see instances of the same or related cancers in multiple branches of the family tree.
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How common are hereditary cancers?
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Hereditary cancers are rare. It is estimated that only about 2 – 3% of all cancers are known to be linked to a cancer-causing mutation. If you have a relative who has or has had cancer, you may be concerned that you are at a greater risk of developing it yourself, however, this is not the case for most people. Cancer is most common in older people and affects 1 in 2 people in the UK at some point in their lives. Therefore, most families will have at least one person who has or has had cancer. The more relatives who have had the same type of cancer or related cancers and the younger their age at diagnosis, the more likely it is that the cancer is hereditary.
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Types of hereditary cancer
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There are many types of hereditary cancers which are caused by mutations in different genes. This website provides information on BRCA-associated breast, ovarian and prostate cancers that are caused by mutations in the BRCA1 and BRCA2 genes (BRCA-associated cancer) and are more common in Ashkenazi Jews than in the general population. Other hereditary cancers such as colorectal cancer are also thought to be relatively more common in Ashkenazi Jews. For information on hereditary colorectal and other hereditary cancers, Cancer Research UK and the Centre for Jewish Genetics in the US provide useful information.
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If you are concerned about cancer in your family, talk to your GP about your family’s cancer history. If appropriate, they will refer you to your regional genetics clinic where a genetic counsellor will provide you with support and information and will discuss with you whether genetic testing is an appropriate option.
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Written by Jnetics. \r\nApproved by Professor Rosalind Eeles Professor of Oncogenetics at The Institute of Cancer Research, The Royal Marsden Hospital London \r\nLast review: 10.09.2016
Since Jnetics established itself as a charity, the positive interest that we have received from affected families, patient-groups, medical and community professionals has been incredible.
\r\n\r\n
Feedback has confirmed that a co-ordinated UK effort to address the needs of people affected by and at risk of Jewish genetic disorders is both very much needed and well overdue.
\r\n\r\n
Our planned educational, referral, and research activities have the potential to make a real and significant impact on disorder prevention and management, and we are currently only limited by the resources we have available to implement these activities.
\r\n\r\n
As a newly established charity we very much need support to achieve our objectives.
\r\n\r\n
If you are interested in helping progress the work of Jnetics, there are three main ways that you can get involved, through volunteering, fundraising, and/or donating.
Since Jnetics established itself as a charity, the positive interest that we have received from affected families, patient-groups, medical and community professionals has been incredible.
\r\n\r\n
Feedback has confirmed that a co-ordinated UK effort to address the needs of people affected by and at risk of Jewish genetic disorders is both very much needed and well overdue.
\r\n\r\n
Our planned educational, referral, and research activities have the potential to make a real and significant impact on disorder prevention and management, and we are currently only limited by the resources we have available to implement these activities.
\r\n\r\n
As a newly established charity we very much need support to achieve our objectives.
\r\n\r\n
If you are interested in helping progress the work of Jnetics, there are three main ways that you can get involved, through volunteering, fundraising, and/or donating.
Since Jnetics established itself as a charity, the positive interest that we have received from affected families, patient-groups, medical and community professionals has been incredible.
\r\n\r\n
Feedback has confirmed that a co-ordinated UK effort to address the needs of people affected by and at risk of Jewish genetic disorders is both very much needed and well overdue.
\r\n\r\n
Our planned educational, referral, and research activities have the potential to make a real and significant impact on disorder prevention and management, and we are currently only limited by the resources we have available to implement these activities.
\r\n\r\n
As a newly established charity we very much need support to achieve our objectives.
\r\n\r\n
If you are interested in helping progress the work of Jnetics, there are three main ways that you can get involved, through volunteering, fundraising, and/or donating.
Jnetics currently relies on just two members of staff with some occasional support from two freelancers, to progress the activities of the charity and manage its day-to-day administration. Although greatly supported by our board of trustees and expert scientific and medical advisory committee, additional hands-on assistance could very much help us to achieve our objectives more quickly.
\r\n\r\n
If you have any time available and would be interested in lending your expertise to Jnetics, we would be delighted to discuss the following volunteering options with you.
\r\n\r\n
Become a Jnetics associate
\r\n\r\n
Jnetics associates are individuals with a variety of valuable skills who volunteer their time on an on-going basis to help further the objectives of the charity. Associates each contribute in a different way - varying in the expertise they provide and the time they have available to give.
\r\n\r\n
To effectively develop and implement our planned services, we will need to consult with experts across a wide range of disciplines. Current associates include people with expertise in social media, marketing, project management and education.
\r\n\r\n
If you have experience that you feel could contribute to the work of Jnetics e.g. in fundraising, community education, healthcare, publishing, database management, administration, lobbying, PR etc., please get in contact to explore the possibility of becoming a Jnetics associate.
\r\n\r\n
Volunteer for a specific project
\r\n\r\n
If you are not able to offer your time or expertise in an on-going capacity but are interested in supporting a particular project, we would be happy to receive any help that you can offer.
\r\n\r\n
Please let us know if there is a project that particularly fits your expertise; that you have a special interest in fundraising for; or if you simply have some time available to help us with the administrative aspects of project delivery.
\r\n\r\n
And do follow us on Twitter @jgduk for all the latest thinking, advances and information on testing for genetic disorders. If you come across something that you think would be of interest to Jnetics please forward it to us either by e-mail or tweet us so we can share it with all our followers.
\r\n\r\n
For all volunteering enquires, please write to info@jnetics.org.
Jnetics currently relies on just two members of staff with some occasional support from two freelancers, to progress the activities of the charity and manage its day-to-day administration. Although greatly supported by our board of trustees and expert scientific and medical advisory committee, additional hands-on assistance could very much help us to achieve our objectives more quickly.
\r\n\r\n
If you have any time available and would be interested in lending your expertise to Jnetics, we would be delighted to discuss the following volunteering options with you.
\r\n\r\n
Become a Jnetics associate
\r\n\r\n
Jnetics associates are individuals with a variety of valuable skills who volunteer their time on an on-going basis to help further the objectives of the charity. Associates each contribute in a different way - varying in the expertise they provide and the time they have available to give.
\r\n\r\n
To effectively develop and implement our planned services, we will need to consult with experts across a wide range of disciplines. Current associates include people with expertise in social media, marketing, project management and education.
\r\n\r\n
If you have experience that you feel could contribute to the work of Jnetics e.g. in fundraising, community education, healthcare, publishing, database management, administration, lobbying, PR etc., please get in contact to explore the possibility of becoming a Jnetics associate.
\r\n\r\n
Volunteer for a specific project
\r\n\r\n
If you are not able to offer your time or expertise in an on-going capacity but are interested in supporting a particular project, we would be happy to receive any help that you can offer.
\r\n\r\n
Please let us know if there is a project that particularly fits your expertise; that you have a special interest in fundraising for; or if you simply have some time available to help us with the administrative aspects of project delivery.
\r\n\r\n
And do follow us on Twitter @jgduk for all the latest thinking, advances and information on testing for genetic disorders. If you come across something that you think would be of interest to Jnetics please forward it to us either by e-mail or tweet us so we can share it with all our followers.
\r\n\r\n
For all volunteering enquires, please write to info@jnetics.org.
Jnetics (formerly known as Jewish Genetic Disorders UK) is a small charity with a big ambition – to make a real difference to the prevention, diagnosis and management of jewish genetic disorders.
\r\n\r\n
Though many people have heard of Tay-Sachs disease, there is little awareness of the other genetic disorders that are relatively more common among Jewish people. These vary in severity, but include conditions that are fatal in childhood and others that lead to chronic disability and shortened lifespan.
\r\n\r\n
No cure exists for the vast majority of these disorders; however, thanks to scientific developments it is now possible to greatly improve their prevention and management.
\r\n\r\n
Jnetics was established to raise awareness of Jewish genetic disorders and to help anyone affected and at risk to access the best information, services and support available.
\r\n\r\n
We believe that knowledge is power but understand that, in the case of genetic disorders, it can also raise difficult issues. All our information is provided impartially, empowering people to explore the disorder management and prevention options that best fit their individual circumstances and beliefs.
For funding we rely entirely on voluntary donations and fundraising activities. To get the most from our funds, we keep our administration and running costs to an absolute minimum.
Jnetics (formerly known as Jewish Genetic Disorders UK) is a small charity with a big ambition – to make a real difference to the prevention, diagnosis and management of jewish genetic disorders.
\r\n\r\n
Though many people have heard of Tay-Sachs disease, there is little awareness of the other genetic disorders that are relatively more common among Jewish people. These vary in severity, but include conditions that are fatal in childhood and others that lead to chronic disability and shortened lifespan.
\r\n\r\n
No cure exists for the vast majority of these disorders; however, thanks to scientific developments it is now possible to greatly improve their prevention and management.
\r\n\r\n
Jnetics was established to raise awareness of Jewish genetic disorders and to help anyone affected and at risk to access the best information, services and support available.
\r\n\r\n
We believe that knowledge is power but understand that, in the case of genetic disorders, it can also raise difficult issues. All our information is provided impartially, empowering people to explore the disorder management and prevention options that best fit their individual circumstances and beliefs.
For funding we rely entirely on voluntary donations and fundraising activities. To get the most from our funds, we keep our administration and running costs to an absolute minimum.
Jnetics (formerly known as Jewish Genetic Disorders UK) is a small charity with a big ambition – to make a real difference to the prevention, diagnosis and management of jewish genetic disorders.
\r\n\r\n
Though many people have heard of Tay-Sachs disease, there is little awareness of the other genetic disorders that are relatively more common among Jewish people. These vary in severity, but include conditions that are fatal in childhood and others that lead to chronic disability and shortened lifespan.
\r\n\r\n
No cure exists for the vast majority of these disorders; however, thanks to scientific developments it is now possible to greatly improve their prevention and management.
\r\n\r\n
Jnetics was established to raise awareness of Jewish genetic disorders and to help anyone affected and at risk to access the best information, services and support available.
\r\n\r\n
We believe that knowledge is power but understand that, in the case of genetic disorders, it can also raise difficult issues. All our information is provided impartially, empowering people to explore the disorder management and prevention options that best fit their individual circumstances and beliefs.
For funding we rely entirely on voluntary donations and fundraising activities. To get the most from our funds, we keep our administration and running costs to an absolute minimum.
Jnetics (formerly known as Jewish Genetic Disorders UK) is a small charity with a big ambition – to make a real difference to the prevention, diagnosis and management of jewish genetic disorders.
\r\n\r\n
Though many people have heard of Tay-Sachs disease, there is little awareness of the other genetic disorders that are relatively more common among Jewish people. These vary in severity, but include conditions that are fatal in childhood and others that lead to chronic disability and shortened lifespan.
\r\n\r\n
No cure exists for the vast majority of these disorders; however, thanks to scientific developments it is now possible to greatly improve their prevention and management.
\r\n\r\n
Jnetics was established to raise awareness of Jewish genetic disorders and to help anyone affected and at risk to access the best information, services and support available.
\r\n\r\n
We believe that knowledge is power but understand that, in the case of genetic disorders, it can also raise difficult issues. All our information is provided impartially, empowering people to explore the disorder management and prevention options that best fit their individual circumstances and beliefs.
For funding we rely entirely on voluntary donations and fundraising activities. To get the most from our funds, we keep our administration and running costs to an absolute minimum.
To make a real difference to the prevention, diagnosis, and management of Jewish genetic disorders by raising awareness and facilitating access to the best available information, services and support for those affected and at risk.
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Objectives
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To increase awareness and understanding of Jewish genetic disorders among affected families, patient groups, healthcare professionals, the Jewish and wider community.
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To improve access to the best available information, services, and support relating to Jewish genetic \r\ndisorders.
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To facilitate access to responsible and professional testing services for people at risk of passing on, and those directly affected by, Jewish genetic disorders.
\r\n
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Principles
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The following core principles guide the way in which Jnetics works:
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Accessible to all
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Our information and services will be available to anyone affected by or interested in Jewish genetic disorders - across all sectors of the Jewish community and wider population.
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Informative not directive
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We work to ensure that our information is as accurate as possible, provided impartially and without judgement – supporting people to move forward in any way that best helps their personal circumstances and beliefs.
\r\n
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Progress through collaboration
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We collaborate with professional and patient groups for the benefit of all involved and ultimately for the benefit of patients and their families.
To make a real difference to the prevention, diagnosis, and management of Jewish genetic disorders by raising awareness and facilitating access to the best available information, services and support for those affected and at risk.
\r\n\r\n
Objectives
\r\n
To increase awareness and understanding of Jewish genetic disorders among affected families, patient groups, healthcare professionals, the Jewish and wider community.
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To improve access to the best available information, services, and support relating to Jewish genetic \r\ndisorders.
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To facilitate access to responsible and professional testing services for people at risk of passing on, and those directly affected by, Jewish genetic disorders.
\r\n
\r\n\r\n
Principles
\r\n\r\n
The following core principles guide the way in which Jnetics works:
\r\n\r\n
Accessible to all
\r\n\r\n
\r\n
Our information and services will be available to anyone affected by or interested in Jewish genetic disorders - across all sectors of the Jewish community and wider population.
\r\n
\r\n\r\n
Informative not directive
\r\n\r\n
\r\n
We work to ensure that our information is as accurate as possible, provided impartially and without judgement – supporting people to move forward in any way that best helps their personal circumstances and beliefs.
\r\n
\r\n\r\n
Progress through collaboration
\r\n\r\n
\r\n
We collaborate with professional and patient groups for the benefit of all involved and ultimately for the benefit of patients and their families.
The GENEius Programme is a pioneering education and screening initiative delivered by Jnetics. It is designed to eliminate severe recessive Jewish genetic disorders (JGDs) from the UK Jewish community and aims to do so by targeting young Jewish adults in 3 main groups; sixth form students, university students, and couples going through the synagogue pre-marriage process.
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The educational element of the programme informs young Jewish adults about the significance of JGDs and the value of carrier screening.The screening element of the programme provides young Jewish adults with access to responsible and affordable screening, allowing them to identify whether or not they are carriers of one or more recessive JGD.
\r\n\r\n
Armed with the knowledge of their carrier status, young adults can then make informed choices to help avoid the risk of passing on one of the severe recessive JGDs to their future children. \r\n \r\nUnderstand your Jewish genes - takecontrol of your future. \r\n \r\nFind out more at geneius.org
The GENEius Programme is a pioneering education and screening initiative delivered by Jnetics. It is designed to eliminate severe recessive Jewish genetic disorders (JGDs) from the UK Jewish community and aims to do so by targeting young Jewish adults in 3 main groups; sixth form students, university students, and couples going through the synagogue pre-marriage process.
\r\n\r\n
The educational element of the programme informs young Jewish adults about the significance of JGDs and the value of carrier screening.The screening element of the programme provides young Jewish adults with access to responsible and affordable screening, allowing them to identify whether or not they are carriers of one or more recessive JGD.
\r\n\r\n
Armed with the knowledge of their carrier status, young adults can then make informed choices to help avoid the risk of passing on one of the severe recessive JGDs to their future children. \r\n \r\nUnderstand your Jewish genes - takecontrol of your future. \r\n \r\nFind out more at geneius.org
Jnetics is funded entirely by voluntary donations and fundraising activities. The contributions of donors and efforts of voluntary fundraisers are fundamental to the continuation and development of Jnetics’s activities.
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To make a donation, please click on the button below. This will take you to a secure area where your donation can be made safely.
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Contributions can also be made by cheque, made payable to ‘Jnetics’, and sent to: \r\nJnetics, Solar House, The Brentano Suite, 915 High Road, Finchley, N12 8QJ
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Contributions can be made by bank transfer: \r\nAccount name: Jnetics \r\nSort code: 08-92-99 \r\nAccount no. 65381447
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Contributions can also be made directly via PayPal \r\n\r\n
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Thank you so much for your contribution - your support has the potential to change lives.
Jnetics is funded entirely by voluntary donations and fundraising activities. The contributions of donors and efforts of voluntary fundraisers are fundamental to the continuation and development of Jnetics’s activities.
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To make a donation, please click on the button below. This will take you to a secure area where your donation can be made safely.
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Contributions can also be made by cheque, made payable to ‘Jnetics’, and sent to: \r\nJnetics, Solar House, The Brentano Suite, 915 High Road, Finchley, N12 8QJ
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Contributions can be made by bank transfer: \r\nAccount name: Jnetics \r\nSort code: 08-92-99 \r\nAccount no. 65381447
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Contributions can also be made directly via PayPal \r\n\r\n
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Thank you so much for your contribution - your support has the potential to change lives.
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(123, 1, '2018-02-05 08:07:55', '2018-02-05 08:07:55', 'In November, Jnetics officially opened a second office based in Prestwich, Manchester. It is situated in The Fed, Manchester’s major Jewish social care charity, providing an ideal community location for the new premises. Aviva Lewis, the new Programme Development Officer, who was previously employed by Jnetics and based in London, is the member of staff working from the new office. She will be responsible for coordinating Jnetics’ activities in the Jewish communities outside of London, including Scotland.\r\n\r\nIt is Aviva’s goal to replicate both the education and screening services provided by Jnetics across the UK and this project is already under way. In the first week of January, Jnetics officially launched their ‘Virtual Clinic’- an off-shoot of their Barnet Clinic. It is a service designed specifically so that individuals living outside of London can access carrier screening for 9 severe recessive Jewish genetic disorders.\r\n\r\nParticipation in the Virtual Clinic essentially involves remote participation in the Barnet Clinic. Only those living outside of London are eligible to take part. Individuals sign up online at the same link as the Barnet Clinic, but rather than attending face-to-face, attend it via phone call. Jnetics sends a screening pack to the participant via post prior to the appointment, which contains the necessary forms and saliva collection kit. After the phone call, the participant provides their sample from home and posts this, along with the forms to the lab at Liverpool Women’s Hospital for testing. Results are returned via email from the genetic counsellor 8-10 weeks later.\r\n\r\nThe opening of the new office, and the launch of the new clinic is a huge milestone for Jnetics and the UK Jewish community. For the first time, there will be equal access to carrier screening for everyone of Ashkenazi Jewish origin across the country.', 'Jnetics Conquers The Provinces And The New Virtual Clinic', '', 'publish', 'closed', 'closed', '', 'jnetics-conquers-the-provinces-and-the-new-virtual-clinic', '', '', '2018-02-05 08:07:55', '2018-02-05 08:07:55', '', 0, 'http://mlajnetics.local//?post_type=cptevents&p=123', 0, 'cptevents', '', 0),
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(126, 2, '2018-02-07 11:10:53', '2018-02-07 11:10:53', '
What does it mean to be ‘carrier’ of a recessive genetic disorder?
Being a carrier of a recessive genetic disorder does not affect your own health because the one normal copy of the gene that you have compensates for the mutated copy. You can, however, pass the mutation on to your children. Children who inherit one copy of the mutated gene from one of their parents will be carriers. There is only a risk of a child being affected with the genetic disorder if they inherit the mutated gene from both parents.
\r\n\r\n
If you are a carrier of a recessive Jewish genetic disorder e.g. Tay Sachs disease, your partner (either now or in the future) should be tested. If you both carry a mutation in the same gene then there will be an increased risk of having an affected child.
\r\n\r\n
If your partner is not a carrier for the same recessive disorder, the risk of having an affected child will be very remote. There will, however, be a 1 in 2 chance of your child being a carrier, like yourself, but this will not affect their health.
\r\n\r\n
What if both partners are carriers of the same recessive disorder?
\r\n\r\n
Where both partners are carriers of the same disorder-causing mutation for a recessive condition, there will be a 1 in 4 chance of having an affected child.
\r\n\r\n
Given the serious nature of many Jewish genetic disorders, it is important to understand the implications of being a carrier couple. It is advisable to be referred to your regional genetics service where you can meet with a genetic counsellor to discuss the implications and options available that may reduce the risk of passing on a disorder should you be planning children.
\r\n\r\n
What is the significance of being a carrier of a dominant disorder?
\r\n\r\n
Although the term ‘carrier’ is commonly used in reference to recessive disorders, it can also be used in the context of dominant conditions. Dominant genetic disorders are those in which a mutation in just one copy of the gene pair is required for the disorder to develop.
Whether affected or not, an individual who carries the mutation for a dominant disorder has a 1 in 2 chance of passing the mutation onto their children - greatly increasing the risk of the children developing the disorder.
\r\n\r\n
Any individual who carries a mutation for a dominant disorder is advised to meet with a genetic counsellor to discuss the implications regarding their own health and that of their children.
\r\n\r\n
More information about recessive and dominant inheritance can be found in the introduction to genetics section.
\r\n\r\n
What options are available to people who are at risk of passing on a genetic disorder?
\r\n\r\n
A summary of the various options available for couples who are at risk of having a child affected with a recessive or dominant genetic disorder are outlined briefly below and can be explained further by a genetic counsellor:
\r\n\r\n
Prenatal Diagnosis (PND):
\r\n\r\n
Prenatal diagnosis, also known as prenatal testing, is performed during pregnancy to assess the health status of the foetus. The two main types of prenatal diagnostic tests are:
\r\n\r\n
\r\n
Chorionic villus sampling (CVS) involves removal and testing of cells from the early placenta (chorion) surrounding a developing foetus. It is performed at around the 12th week of pregnancy and results tend to take 1 to 2 weeks to process.
\r\n
Amniocentesis involves removing and testing of cells from the amniotic fluid that surrounds the developing foetus. It is performed from around the 15th week of pregnancy and results usually take up to 2 weeks to process, although for certain tests results can take longer.
\r\n
\r\n\r\n
The two tests differ in timing, process and risk of miscarriage, however, the genetic testing procedure on the extracted sample cells tends to be the same for both.
\r\n\r\n
If the results of the prenatal diagnosis find that the genetic disorder has been passed onto the foetus, further information and support are available to you from your genetic counsellor and also from an organisation called ARC (Antenatal results and choices).
\r\n\r\n
Pre-implantation Genetic Diagnosis (PGD):
\r\n\r\n
This is a technology which utilises in vitro fertilisation techniques (IVF or test-tube baby) to create an embryo in the laboratory using eggs and sperm collected from the couple. The embryos are tested for the gene in question, in order to identify the ones that will be affected with the genetic condition. Unaffected embryos can then be transferred into the womb, in the hope that a pregnancy will result which will not develop the genetic condition tested for.
\r\n\r\n
In the UK there are a small number of centres that offer PGD treatment, see the HFEA website for details. Before being referred to a PGD clinic you should be referred to your regional genetics service to discuss all the options fully.
\r\n\r\n
Donor Gametes:
\r\n\r\n
If both members of the couple are carriers then another way to avoid having an affected child is to use a sperm or egg from a donor individual who is not a carrier.
\r\n\r\n
Adoption:
\r\n\r\n
Some couples who are at risk of having a child with a genetic condition decide to adopt children thereby removing the chance that they will pass the disorder onto their children.
\r\n\r\n
No (more) children:
\r\n\r\n
In some situations couples feel that none of the above options are appropriate for them, and so they decide not to have children, or not to extend their family if they already have children.
Being a carrier of a recessive genetic disorder does not affect your own health because the one normal copy of the gene that you have compensates for the mutated copy. You can, however, pass the mutation on to your children. Children who inherit one copy of the mutated gene from one of their parents will be carriers. There is only a risk of a child being affected with the genetic disorder if they inherit the mutated gene from both parents.
\r\n\r\n
If you are a carrier of a recessive Jewish genetic disorder e.g. Tay Sachs disease, your partner (either now or in the future) should be tested. If you both carry a mutation in the same gene then there will be an increased risk of having an affected child.
\r\n\r\n
If your partner is not a carrier for the same recessive disorder, the risk of having an affected child will be very remote. There will, however, be a 1 in 2 chance of your child being a carrier, like yourself, but this will not affect their health.
\r\n\r\n
What if both partners are carriers of the same recessive disorder?
\r\n\r\n
Where both partners are carriers of the same disorder-causing mutation for a recessive condition, there will be a 1 in 4 chance of having an affected child.
\r\n\r\n
Given the serious nature of many Jewish genetic disorders, it is important to understand the implications of being a carrier couple. It is advisable to be referred to your regional genetics service where you can meet with a genetic counsellor to discuss the implications and options available that may reduce the risk of passing on a disorder should you be planning children.
\r\n\r\n
What is the significance of being a carrier of a dominant disorder?
\r\n\r\n
Although the term ‘carrier’ is commonly used in reference to recessive disorders, it can also be used in the context of dominant conditions. Dominant genetic disorders are those in which a mutation in just one copy of the gene pair is required for the disorder to develop.
Whether affected or not, an individual who carries the mutation for a dominant disorder has a 1 in 2 chance of passing the mutation onto their children - greatly increasing the risk of the children developing the disorder.
\r\n\r\n
Any individual who carries a mutation for a dominant disorder is advised to meet with a genetic counsellor to discuss the implications regarding their own health and that of their children.
\r\n\r\n
More information about recessive and dominant inheritance can be found in the introduction to genetics section.
\r\n\r\n
What options are available to people who are at risk of passing on a genetic disorder?
\r\n\r\n
A summary of the various options available for couples who are at risk of having a child affected with a recessive or dominant genetic disorder are outlined briefly below and can be explained further by a genetic counsellor:
\r\n\r\n
Prenatal Diagnosis (PND):
\r\n\r\n
Prenatal diagnosis, also known as prenatal testing, is performed during pregnancy to assess the health status of the foetus. The two main types of prenatal diagnostic tests are:
\r\n\r\n
\r\n
Chorionic villus sampling (CVS) involves removal and testing of cells from the early placenta (chorion) surrounding a developing foetus. It is performed at around the 12th week of pregnancy and results tend to take 1 to 2 weeks to process.
\r\n
Amniocentesis involves removing and testing of cells from the amniotic fluid that surrounds the developing foetus. It is performed from around the 15th week of pregnancy and results usually take up to 2 weeks to process, although for certain tests results can take longer.
\r\n
\r\n\r\n
The two tests differ in timing, process and risk of miscarriage, however, the genetic testing procedure on the extracted sample cells tends to be the same for both.
\r\n\r\n
If the results of the prenatal diagnosis find that the genetic disorder has been passed onto the foetus, further information and support are available to you from your genetic counsellor and also from an organisation called ARC (Antenatal results and choices).
\r\n\r\n
Pre-implantation Genetic Diagnosis (PGD):
\r\n\r\n
This is a technology which utilises in vitro fertilisation techniques (IVF or test-tube baby) to create an embryo in the laboratory using eggs and sperm collected from the couple. The embryos are tested for the gene in question, in order to identify the ones that will be affected with the genetic condition. Unaffected embryos can then be transferred into the womb, in the hope that a pregnancy will result which will not develop the genetic condition tested for.
\r\n\r\n
In the UK there are a small number of centres that offer PGD treatment, see the HFEA website for details. Before being referred to a PGD clinic you should be referred to your regional genetics service to discuss all the options fully.
\r\n\r\n
Donor Gametes:
\r\n\r\n
If both members of the couple are carriers then another way to avoid having an affected child is to use a sperm or egg from a donor individual who is not a carrier.
\r\n\r\n
Adoption:
\r\n\r\n
Some couples who are at risk of having a child with a genetic condition decide to adopt children thereby removing the chance that they will pass the disorder onto their children.
\r\n\r\n
No (more) children:
\r\n\r\n
In some situations couples feel that none of the above options are appropriate for them, and so they decide not to have children, or not to extend their family if they already have children.
Yes, registration for both clinics involves the same link and same booking form. There is a tick box on the booking form that individuals living outside of London must select. This will indicate to Jnetics that they will be attending the Virtual Clinic.
You can either book an appointment further in advance, or wait to see if there are any cancellations. If timing is a concern eg. you are currently pregnant or planning to start or expand your family in the immediate future, an alternative screening option is available at Guy’s hospital at the cost of £330.
The cost of testing for all 9 disorders is £190 per person. If you are interested in screening but are unable to afford the subsidised amount of £190, please contact us at screening@jnetics.org as there may be an option to offer some limited financial assistance.
Currently, only Tay-Sachs is covered by the NHS for the Ashkenazi Jewish community. The other conditions covered in the Jnetics screening test are not available on the NHS unless you have an established family history of a particular condition. In this case, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
No. All participants must pre-register for their screening appointment. For those attending the Barnet Clinic, registration is possible up until 3pm on the day before the appointment. For those attending the Virtual Clinic, registration is possible until a week before the appointment.
If you are running late, we ask that you inform us by emailing both screening@jnetics.org and lnwh-tr.jnetics@nhs.net. We will still try and fit in your screening but it is likely you may need to wait until the people who have arrived on time have been seen. Please do try to arrive on time to avoid waiting.
If you have booked but are unable to attend, please email screening@jnetics.org as soon as possible to enable your slot to be re-assigned. A full refund will be given up to 48 hours before the screening event – after this, the refund will have £25 taken off for late administration costs.
Carrier testing for the Jewish genetic disorders covered in the Jnetics screening programme is very accurate, although it is important to note that no test is ever 100% accurate. \r\nThis screening test detects between 93%-99.5% of carriers in the Ashkenazi Jewish population with detection rates varying slightly across the different conditions. Since this screening panel tests for specific genetic changes common to the Ashkenazi population, it is less accurate in people of non-Ashkenazi origin.
If only one partner is Ashkenazi, it is reasonable for that partner to be screened. If the Ashkenazi partner is found to be a carrier of a particular disorder, then it is advisable for the other partner to also be tested to see if they are a carrier specifically for that condition. \r\nIf you are not sure of the extent to which you have Ashkenazi ancestry, but suspect that you have at least one Ashkenazi grandparent, it is still sensible to be tested. This is because if you have some Ashkenazi ancestry, you will have an increased risk relative to the general population, though this will be lower than people of full Ashkenazi descent. \r\nIf both partners are of Sephardi origin this screening test is not directly relevant as the carrier rates for Jewish genetic disorders among Jews of non-Ashkenazi origin are no higher than in the general population. \r\nHowever, if one or both partners are Sephardi with Moroccan ancestry, then testing for Tay-Sachs is still relevant as there is an increased risk (about 1 in 80 Moroccan Jews are Tay-Sachs carriers). In this case, an option to test specifically for Tay-Sachs will be available on the day in parallel to the Ashkenazi screening test.
Although it is possible for one partner to be tested, if that partner is a carrier of a particular disorder then the other one should also be tested for that disorder. Only in cases where both partners are carriers of the same disorder is there an increased risk of them having an affected child. \r\nIf you choose for only one partner to be tested, the person who has the strongest Ashkenazi origin should be the one that is screened.
Although it is advisable to have carrier screening prior to pregnancy, testing is possible if you are already pregnant. However, if you will be over 16 weeks pregnant by appointment date then please contact us at screening@jnetics.org to enable us to discuss with you the implications and options available for screening in later stage pregnancy.
Even if you already have healthy children, it is possible that future children could be affected by a Jewish genetic disorder if both partners are carriers for the same disorder. If you are considering expanding your family then testing is still relevant.
The Jnetics screen identifies carriers of all nine conditions in one go. However, if you do have a family history of a particular Jewish genetic disorder, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
Jnetics screening services do NOT include screening for BRCA mutations. However, if you are concerned about cancer in your family and would like more information about how to access BRCA screening if appropriate, please contact screening@jnetics.org.
Providing a saliva sample involves spitting in to a saliva collection kit. The process is very straight forwards. Participants must remember not to eat, drink (even water), smoke or chew gum 30 minutes prior the their appointment.
You will receive your results from the Jnetics Genetic Counsellor via email within 8-10 weeks of the screening event. You will receive these whether or not you are found to be a carrier.
The results of your carrier screening test will be delivered directly to the Jnetics genetic counsellor at Northwick Park Hospital who will only share the results with you. The results of your test are strictly confidential and will not be shared with any additional parties unless you request otherwise.
It will not affect your own health in any way. If you are found to be a carrier and are planning a family, it is sensible for your partner to be tested. If s/he is also a carrier there will be a 1 in 4 risk of having an affected child. If s/he is not a carrier there will not be a significant risk of having an affected child.
You will have the opportunity to discuss your results with a dedicated Jnetics genetic counsellor. The implications of being a carrier are only significant if your current or future partner is also a carrier of the same condition. In this situation it will be possible to make an appointment with a genetic counsellor to discuss the different options available to reduce the risk of having an affected child.
Some insurance companies may cover the cost of the Jnetics carrier screening test, however you will need to check with your individual provider directly. If you would like a service receipt from Jnetics, please contact us at screening@jnetics.org and we will be happy to provide you with one.
Yes, registration for both clinics involves the same link and same booking form. There is a tick box on the booking form that individuals living outside of London must select. This will indicate to Jnetics that they will be attending the Virtual Clinic.
You can either book an appointment further in advance, or wait to see if there are any cancellations. If timing is a concern eg. you are currently pregnant or planning to start or expand your family in the immediate future, an alternative screening option is available at Guy’s hospital at the cost of £330.
The cost of testing for all 9 disorders is £190 per person. If you are interested in screening but are unable to afford the subsidised amount of £190, please contact us at screening@jnetics.org as there may be an option to offer some limited financial assistance.
Currently, only Tay-Sachs is covered by the NHS for the Ashkenazi Jewish community. The other conditions covered in the Jnetics screening test are not available on the NHS unless you have an established family history of a particular condition. In this case, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
No. All participants must pre-register for their screening appointment. For those attending the Barnet Clinic, registration is possible up until 3pm on the day before the appointment. For those attending the Virtual Clinic, registration is possible until a week before the appointment.
If you are running late, we ask that you inform us by emailing both screening@jnetics.org and lnwh-tr.jnetics@nhs.net. We will still try and fit in your screening but it is likely you may need to wait until the people who have arrived on time have been seen. Please do try to arrive on time to avoid waiting.
If you have booked but are unable to attend, please email screening@jnetics.org as soon as possible to enable your slot to be re-assigned. A full refund will be given up to 48 hours before the screening event – after this, the refund will have £25 taken off for late administration costs.
Carrier testing for the Jewish genetic disorders covered in the Jnetics screening programme is very accurate, although it is important to note that no test is ever 100% accurate. \r\nThis screening test detects between 93%-99.5% of carriers in the Ashkenazi Jewish population with detection rates varying slightly across the different conditions. Since this screening panel tests for specific genetic changes common to the Ashkenazi population, it is less accurate in people of non-Ashkenazi origin.
If only one partner is Ashkenazi, it is reasonable for that partner to be screened. If the Ashkenazi partner is found to be a carrier of a particular disorder, then it is advisable for the other partner to also be tested to see if they are a carrier specifically for that condition. \r\nIf you are not sure of the extent to which you have Ashkenazi ancestry, but suspect that you have at least one Ashkenazi grandparent, it is still sensible to be tested. This is because if you have some Ashkenazi ancestry, you will have an increased risk relative to the general population, though this will be lower than people of full Ashkenazi descent. \r\nIf both partners are of Sephardi origin this screening test is not directly relevant as the carrier rates for Jewish genetic disorders among Jews of non-Ashkenazi origin are no higher than in the general population. \r\nHowever, if one or both partners are Sephardi with Moroccan ancestry, then testing for Tay-Sachs is still relevant as there is an increased risk (about 1 in 80 Moroccan Jews are Tay-Sachs carriers). In this case, an option to test specifically for Tay-Sachs will be available on the day in parallel to the Ashkenazi screening test.
Although it is possible for one partner to be tested, if that partner is a carrier of a particular disorder then the other one should also be tested for that disorder. Only in cases where both partners are carriers of the same disorder is there an increased risk of them having an affected child. \r\nIf you choose for only one partner to be tested, the person who has the strongest Ashkenazi origin should be the one that is screened.
Although it is advisable to have carrier screening prior to pregnancy, testing is possible if you are already pregnant. However, if you will be over 16 weeks pregnant by appointment date then please contact us at screening@jnetics.org to enable us to discuss with you the implications and options available for screening in later stage pregnancy.
Even if you already have healthy children, it is possible that future children could be affected by a Jewish genetic disorder if both partners are carriers for the same disorder. If you are considering expanding your family then testing is still relevant.
The Jnetics screen identifies carriers of all nine conditions in one go. However, if you do have a family history of a particular Jewish genetic disorder, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
Jnetics screening services do NOT include screening for BRCA mutations. However, if you are concerned about cancer in your family and would like more information about how to access BRCA screening if appropriate, please contact screening@jnetics.org.
Providing a saliva sample involves spitting in to a saliva collection kit. The process is very straight forwards. Participants must remember not to eat, drink (even water), smoke or chew gum 30 minutes prior the their appointment.
You will receive your results from the Jnetics Genetic Counsellor via email within 8-10 weeks of the screening event. You will receive these whether or not you are found to be a carrier.
The results of your carrier screening test will be delivered directly to the Jnetics genetic counsellor at Northwick Park Hospital who will only share the results with you. The results of your test are strictly confidential and will not be shared with any additional parties unless you request otherwise.
It will not affect your own health in any way. If you are found to be a carrier and are planning a family, it is sensible for your partner to be tested. If s/he is also a carrier there will be a 1 in 4 risk of having an affected child. If s/he is not a carrier there will not be a significant risk of having an affected child.
You will have the opportunity to discuss your results with a dedicated Jnetics genetic counsellor. The implications of being a carrier are only significant if your current or future partner is also a carrier of the same condition. In this situation it will be possible to make an appointment with a genetic counsellor to discuss the different options available to reduce the risk of having an affected child.
Some insurance companies may cover the cost of the Jnetics carrier screening test, however you will need to check with your individual provider directly. If you would like a service receipt from Jnetics, please contact us at screening@jnetics.org and we will be happy to provide you with one.
Carrier testing for Jewish genetic disorders covered by the NHS
\r\n\r\n
Carrier testing for Jewish genetic disorders other than Tay-Sachs is only available on the NHS to people that have a clear family history of a particular disorder.
\r\n\r\n
If you do have a family history, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
\r\n\r\n
Private services for carrier testing
\r\n\r\n
Guy’s and St Thomas’ Hospital currently offer a self-funded (private) service that provides carrier testing for 9 recessive disorders relevant to people of Ashkenazi Jewish descent. The test is available from their existing Tay-Sachs clinic and is offered in parallel with the NHS funded Tay-Sachs test. Details about this service can be found in the Guy’s carrier testing service section.
\r\n\r\n
Barnet General Hospital also offers carrier testing for 9 recessive disorders via their Tay-Sachs clinic on a Thursday morning between 9am and 10:30am. The service is by appointment only and can be booked online by clicking the link above.
\r\n\r\n
Dor Yeshorim is an organisation that offers a subsidised screening system for recessive Jewish disorders to ultra-orthodox Jews that are interested in having a ‘shidduch’ (arranged marriage). Screening results are not given to participants but an anonymous PIN system can be used to assess genetic compatibility with a potential partners.
\r\n\r\n
Other private service providers that offer carrier testing in the UK for a range of Jewish genetic disorders are outlined below.
\r\n\r\n
These private services are usually available directly to the public and vary in terms of the disorders that they cover, services they include, cost, and the extent to which the laboratories are regulated.
\r\n\r\n
For details of each service, click on the relevant link. Please note that inclusion of the private services below by Jnetics does not represent an endorsement of their services.
\r\n\r\n
\r\n
The Doctor’s Laboratory (TDL) - offers testing for 9 recessive Ashkenazi Jewish genetic disorders (plus Gaucher disease and others on request and at extra cost). The private screening service is available to anyone and results are given directly to the individuals being tested.
\r\n\r\n
This is my: Health screening and ultrasound centre - offers an Alef8 genetic screening service providing a DNA test for 8 recessive genetic disorders that are of particular relevance to Ashkenazi Jews.
Carrier testing for Jewish genetic disorders covered by the NHS
\r\n\r\n
Carrier testing for Jewish genetic disorders other than Tay-Sachs is only available on the NHS to people that have a clear family history of a particular disorder.
\r\n\r\n
If you do have a family history, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
\r\n\r\n
Private services for carrier testing
\r\n\r\n
Guy’s and St Thomas’ Hospital currently offer a self-funded (private) service that provides carrier testing for 9 recessive disorders relevant to people of Ashkenazi Jewish descent. The test is available from their existing Tay-Sachs clinic and is offered in parallel with the NHS funded Tay-Sachs test. Details about this service can be found in the Guy’s carrier testing service section.
\r\n\r\n
Barnet General Hospital also offers carrier testing for 9 recessive disorders via their Tay-Sachs clinic on a Thursday morning between 9am and 10:30am. The service is by appointment only and can be booked online by clicking the link above.
\r\n\r\n
Dor Yeshorim is an organisation that offers a subsidised screening system for recessive Jewish disorders to ultra-orthodox Jews that are interested in having a ‘shidduch’ (arranged marriage). Screening results are not given to participants but an anonymous PIN system can be used to assess genetic compatibility with a potential partners.
\r\n\r\n
Other private service providers that offer carrier testing in the UK for a range of Jewish genetic disorders are outlined below.
\r\n\r\n
These private services are usually available directly to the public and vary in terms of the disorders that they cover, services they include, cost, and the extent to which the laboratories are regulated.
\r\n\r\n
For details of each service, click on the relevant link. Please note that inclusion of the private services below by Jnetics does not represent an endorsement of their services.
\r\n\r\n
\r\n
The Doctor’s Laboratory (TDL) - offers testing for 9 recessive Ashkenazi Jewish genetic disorders (plus Gaucher disease and others on request and at extra cost). The private screening service is available to anyone and results are given directly to the individuals being tested.
\r\n\r\n
This is my: Health screening and ultrasound centre - offers an Alef8 genetic screening service providing a DNA test for 8 recessive genetic disorders that are of particular relevance to Ashkenazi Jews.
For over 2000 years Jews have been a migratory people establishing communities throughout the Middle East and Mediterranean basin. Contemporary Jewish populations can be divided into three groups according to their area of long-term residence: Middle Eastern (or Oriental) Jews, Sephardi Jews, and Ashkenazi Jews.
\r\n\r\n
From the 6th to 9th century, some Jews migrated from the Middle East west to Germany, France and England. In the 12th and 13th centuries, these Jews were expelled from Western Europe and moved east, settling largely in Poland, Lithuania, Belarus, the Ukraine and Russia, where they remained, largely isolated, for the following five centuries.
\r\n\r\n
In the late 19th and early 20th centuries, this population, now referred to as Ashkenazi Jewry, moved westwards with large migrations to the Americas, Western Europe, Australia and South Africa and some returning to the area which is now modern Israel.
\r\n\r\n
In Britain, it is estimated that 90% - 95% of Jewish people are of Ashkenazi Jewish ancestry.
\r\n\r\n
Genetic disorders among Ashkenazi Jews:
\r\n\r\n
Having been reproductively isolated for centuries – and having grown from a small number of founders into a large population in a fairly short period – Ashkenazi Jews are a relatively homogenous group that have inherited a range of rare genetic disorders.
\r\n\r\n
For over 50 years, much research has focused on identifying genetic disorders among people of Ashkenazi descent. More than 20 disorders have been established as being of particular relevance to this group. Though rare, many are serious, debilitating and life-shortening.
\r\n\r\n
Summary of Ashkenazi Jewish genetic disorders:
\r\n\r\n
The link below provides a summary of some genetic disorders that are particularly relevant to people of Ashkenazi ancestry.
Other disorders established as being of higher prevalence among Ashkenazi Jews include: non-syndromic hearing loss and maple syrup urine disease.
\r\n\r\n
Further information:
\r\n\r\n
For more information about each of these disorders, please click on the relevant disorder page within the Ashkenazi Disorders section on the left of this page.
\r\n\r\n
PLEASE NOTE: These disorder pages are provided for information and educational purposes only and do NOT represent advice regarding individual medical cases. If you have personal concerns about being affected by any of these disorders, we recommend that you consult with your doctor or another relevant healthcare specialist.
For over 2000 years Jews have been a migratory people establishing communities throughout the Middle East and Mediterranean basin. Contemporary Jewish populations can be divided into three groups according to their area of long-term residence: Middle Eastern (or Oriental) Jews, Sephardi Jews, and Ashkenazi Jews.
\r\n\r\n
From the 6th to 9th century, some Jews migrated from the Middle East west to Germany, France and England. In the 12th and 13th centuries, these Jews were expelled from Western Europe and moved east, settling largely in Poland, Lithuania, Belarus, the Ukraine and Russia, where they remained, largely isolated, for the following five centuries.
\r\n\r\n
In the late 19th and early 20th centuries, this population, now referred to as Ashkenazi Jewry, moved westwards with large migrations to the Americas, Western Europe, Australia and South Africa and some returning to the area which is now modern Israel.
\r\n\r\n
In Britain, it is estimated that 90% - 95% of Jewish people are of Ashkenazi Jewish ancestry.
\r\n\r\n
Genetic disorders among Ashkenazi Jews:
\r\n\r\n
Having been reproductively isolated for centuries – and having grown from a small number of founders into a large population in a fairly short period – Ashkenazi Jews are a relatively homogenous group that have inherited a range of rare genetic disorders.
\r\n\r\n
For over 50 years, much research has focused on identifying genetic disorders among people of Ashkenazi descent. More than 20 disorders have been established as being of particular relevance to this group. Though rare, many are serious, debilitating and life-shortening.
\r\n\r\n
Summary of Ashkenazi Jewish genetic disorders:
\r\n\r\n
The link below provides a summary of some genetic disorders that are particularly relevant to people of Ashkenazi ancestry.
Other disorders established as being of higher prevalence among Ashkenazi Jews include: non-syndromic hearing loss and maple syrup urine disease.
\r\n\r\n
Further information:
\r\n\r\n
For more information about each of these disorders, please click on the relevant disorder page within the Ashkenazi Disorders section on the left of this page.
\r\n\r\n
PLEASE NOTE: These disorder pages are provided for information and educational purposes only and do NOT represent advice regarding individual medical cases. If you have personal concerns about being affected by any of these disorders, we recommend that you consult with your doctor or another relevant healthcare specialist.
For over 2000 years Jews have been a migratory people establishing communities throughout the Middle East and Mediterranean basin. Contemporary Jewish populations can be divided into three groups according to their area of long-term residence: Middle Eastern (or Oriental) Jews, Sephardi Jews, and Ashkenazi Jews.
\r\n\r\n
From the 6th to 9th century, some Jews migrated from the Middle East west to Germany, France and England. In the 12th and 13th centuries, these Jews were expelled from Western Europe and moved east, settling largely in Poland, Lithuania, Belarus, the Ukraine and Russia, where they remained, largely isolated, for the following five centuries.
\r\n\r\n
In the late 19th and early 20th centuries, this population, now referred to as Ashkenazi Jewry, moved westwards with large migrations to the Americas, Western Europe, Australia and South Africa and some returning to the area which is now modern Israel.
\r\n\r\n
In Britain, it is estimated that 90% - 95% of Jewish people are of Ashkenazi Jewish ancestry.
\r\n\r\n
Genetic disorders among Ashkenazi Jews:
\r\n\r\n
Having been reproductively isolated for centuries – and having grown from a small number of founders into a large population in a fairly short period – Ashkenazi Jews are a relatively homogenous group that have inherited a range of rare genetic disorders.
\r\n\r\n
For over 50 years, much research has focused on identifying genetic disorders among people of Ashkenazi descent. More than 20 disorders have been established as being of particular relevance to this group. Though rare, many are serious, debilitating and life-shortening.
\r\n\r\n
Summary of Ashkenazi Jewish genetic disorders:
\r\n\r\n
The link below provides a summary of some genetic disorders that are particularly relevant to people of Ashkenazi ancestry.
Other disorders established as being of higher prevalence among Ashkenazi Jews include: non-syndromic hearing loss and maple syrup urine disease.
\r\n\r\n
Further information:
\r\n\r\n
For more information about each of these disorders, please click on the relevant disorder page within the Ashkenazi Disorders section on the left of this page.
\r\n\r\n
PLEASE NOTE: These disorder pages are provided for information and educational purposes only and do NOT represent advice regarding individual medical cases. If you have personal concerns about being affected by any of these disorders, we recommend that you consult with your doctor or another relevant healthcare specialist.
For over 2000 years Jews have been a migratory people establishing communities throughout the Middle East and Mediterranean basin. Contemporary Jewish populations can be divided into three groups according to their area of long-term residence: Middle Eastern (or Oriental) Jews, Sephardi Jews, and Ashkenazi Jews.
\r\n\r\n
From the 6th to 9th century, some Jews migrated from the Middle East west to Germany, France and England. In the 12th and 13th centuries, these Jews were expelled from Western Europe and moved east, settling largely in Poland, Lithuania, Belarus, the Ukraine and Russia, where they remained, largely isolated, for the following five centuries.
\r\n\r\n
In the late 19th and early 20th centuries, this population, now referred to as Ashkenazi Jewry, moved westwards with large migrations to the Americas, Western Europe, Australia and South Africa and some returning to the area which is now modern Israel.
\r\n\r\n
In Britain, it is estimated that 90% - 95% of Jewish people are of Ashkenazi Jewish ancestry.
\r\n\r\n
Genetic disorders among Ashkenazi Jews:
\r\n\r\n
Having been reproductively isolated for centuries – and having grown from a small number of founders into a large population in a fairly short period – Ashkenazi Jews are a relatively homogenous group that have inherited a range of rare genetic disorders.
\r\n\r\n
For over 50 years, much research has focused on identifying genetic disorders among people of Ashkenazi descent. More than 20 disorders have been established as being of particular relevance to this group. Though rare, many are serious, debilitating and life-shortening.
\r\n\r\n
Summary of Ashkenazi Jewish genetic disorders:
\r\n\r\n
The link below provides a summary of some genetic disorders that are particularly relevant to people of Ashkenazi ancestry.
Other disorders established as being of higher prevalence among Ashkenazi Jews include: non-syndromic hearing loss and maple syrup urine disease.
\r\n\r\n
Further information:
\r\n\r\n
For more information about each of these disorders, please click on the relevant disorder page within the Ashkenazi Disorders section on the left of this page.
\r\n\r\n
PLEASE NOTE: These disorder pages are provided for information and educational purposes only and do NOT represent advice regarding individual medical cases. If you have personal concerns about being affected by any of these disorders, we recommend that you consult with your doctor or another relevant healthcare specialist.
For over 2000 years Jews have been a migratory people establishing communities throughout the Middle East and Mediterranean basin. Contemporary Jewish populations can be divided into three groups according to their area of long-term residence: Middle Eastern (or Oriental) Jews, Sephardi Jews, and Ashkenazi Jews.
\r\n\r\n
From the 6th to 9th century, some Jews migrated from the Middle East west to Germany, France and England. In the 12th and 13th centuries, these Jews were expelled from Western Europe and moved east, settling largely in Poland, Lithuania, Belarus, the Ukraine and Russia, where they remained, largely isolated, for the following five centuries.
\r\n\r\n
In the late 19th and early 20th centuries, this population, now referred to as Ashkenazi Jewry, moved westwards with large migrations to the Americas, Western Europe, Australia and South Africa and some returning to the area which is now modern Israel.
\r\n\r\n
In Britain, it is estimated that 90% - 95% of Jewish people are of Ashkenazi Jewish ancestry.
\r\n\r\n
Genetic disorders among Ashkenazi Jews:
\r\n\r\n
Having been reproductively isolated for centuries – and having grown from a small number of founders into a large population in a fairly short period – Ashkenazi Jews are a relatively homogenous group that have inherited a range of rare genetic disorders.
\r\n\r\n
For over 50 years, much research has focused on identifying genetic disorders among people of Ashkenazi descent. More than 20 disorders have been established as being of particular relevance to this group. Though rare, many are serious, debilitating and life-shortening.
\r\n\r\n
Summary of Ashkenazi Jewish genetic disorders:
\r\n\r\n
The link below provides a summary of some genetic disorders that are particularly relevant to people of Ashkenazi ancestry.
Other disorders established as being of higher prevalence among Ashkenazi Jews include: non-syndromic hearing loss and maple syrup urine disease.
\r\n\r\n
Further information:
\r\n\r\n
For more information about each of these disorders, please click on the relevant disorder page within the Ashkenazi Disorders section on the left of this page.
\r\n\r\n
PLEASE NOTE: These disorder pages are provided for information and educational purposes only and do NOT represent advice regarding individual medical cases. If you have personal concerns about being affected by any of these disorders, we recommend that you consult with your doctor or another relevant healthcare specialist.
This section includes links to genetic testing services for Tay-Sachs disease and other Jewish genetic disorders; and counselling services that offer support for people dealing with a range of issues relating to genetic conditions. \r\n
\r\n\r\n
\r\nPlease click on the titles to open and close the following information sections.
There are a number of benefits and allowances that may be available to you if you have a genetic disorder or care for someone who does. You may also be looking for advice on schooling or statementing, or housing or respite. As a first port of call it’s worth speaking to a member of your social work team or your specialist nurse if you have one, or to your local Citizen’s Advice Bureau.
CAB offers free, independent and confidential advice about debt and consumer issues, benefits, housing, legal matters and employment. They provide assistance with claiming welfare benefits, including practical help with filling out benefit application forms. They offer an on-line facility, or advice face-to-face or by phone. Check your local telephone directory or their website to find your nearest branch.
\r\n\r\n
Other useful sources of information and advice include:
A government website which provides information about a wide range of public services including benefits such as Employment and Support Allowance, Incapacity Benefit, Income Support, Attendance Allowance, Disability Living Allowance and Carer’s Allowance.
\r\n\r\n
There is also a benefits enquiry line that you can call if you would like to speak directly to someone. Details listed below.
\r\n\r\n
Benefits Enquiry Line (BEL)
\r\n\r\n
0800 882 200 (Monday – Friday, 8.30am – 6.30pm; Saturday 9am –1pm) \r\nOffers information about benefits to people, and their carers, with an illness or disability. BEL can send out leaflets and claim packs. The enquiry line also provides assistance, over the phone, with filling out benefit application forms.
\r\n\r\n
Disability Benefits Helpline
\r\n\r\n
0845 712 3456 (Monday – Friday, 7.30am – 6.30pm) \r\nCall to access information on Attendance Allowance and Living Allowance.
The DCS provides information about benefits to people with an illness or disability, and their carers. It is responsible for delivering Attendance Allowance, Disability Living Allowance and Carers’ Allowance. It is part of the Department for Work and Pensions. \r\nIt provides the Benefit Enquire Line (as above) to answer benefit enquiries over the phone. \r\nTel: 0800 882 200 (Monday – Friday, 8.30am – 6.30pm; Saturday 9am – 1pm)
0800 0 55 66 88 (Monday – Friday, 8am – 6pm) \r\nJobcentre Plus supports people of working age who cannot work, or who are looking for work. Provides information and is responsible for delivering Statutory Sick Pay, Employment and Support Allowance, Incapacity Benefit, Carer’s Allowance. Also provides additional financial support to people living on low incomes.
0800 917 7711 (NHS prescription charges) 0845 610 1112 (NHS form line) \r\nWebsite gives information about prescription charges and getting help with health costs. Download leaflet ‘Help with Health Costs’ (HC11 form).
0845 850 0030 (Monday – Friday, 8am – 6pm and Saturday, 9am – 3pm). \r\nTelephone helpline offers information, allows you to order certificate as well as a list of pharmacies able to supply certificates.
0845 300 3900 (8am – 8pm, every day except Christmas Day, Boxing Day and New Years Day) For enquiries about applications or entitlement to tax credits.
If you are travelling to a country within the European Union (or Switzerland) you can apply for a European Health Insurance Card (EHIC). The EHIC enables you to get free or reduced cost emergency treatment within the European Union. It entitles you to the same care as people living in another EU country, which could differ from that available on the NHS. EHIC has replaced the old E111 form and can be obtained from your local post office or by telephoning 0845 606 2030.
\r\n\r\n
Specialist travel insurance companies
\r\n\r\n
There are several travel insurance companies that specialise in providing travel insurance for people with pre-existing medical conditions. Myeloma UK has put together an information sheet with the contact details of several of these companies. To view or download their leaflet go to:
Myeloma is a type of cancer but the companies listed specialise in providing travel insurance for people with a number of pre-existing medical conditions (not solely cancer.)
The DLF aims to make everyday life easier for disabled people, older people and their carers, by giving expert and impartial advice about equipment. Equipment centre displays a wide range of useful gadgets.
GeneReviews are expert-authored, peer-reviewed disease descriptions published on-line. The articles, accessed using their database, include in-depth information on the generics, testing, diagnosis, management, and counselling issues for a wide range of inherited disorders.
The Jewish Medical Association (UK) serves as an umbrella organisation for all Jewish healthcare professionals in the UK. Its work includes: providing social and educational activities for Jewish healthcare students and professionals; providing a public forum for the discussion of Jewish issues in medicine and healthcare; and facilitating and developing medical connections with Israel.
OMIM is a comprehensive and authoritative resource that provides a summary of key scientific research on all know Mendelian disorders and over 12,000 human genes and genetic phenotypes. It is regularly updated and the entries contain extensive links to other resources.
An independent charity involved in research to achieve the responsible application of biomedical science for health. The site provides easy access to a wide range of in-depth resources, reports, papers and links relating to genetics and its practical application in the UK.
This section includes links to genetic testing services for Tay-Sachs disease and other Jewish genetic disorders; and counselling services that offer support for people dealing with a range of issues relating to genetic conditions. \r\n
\r\n\r\n
\r\nPlease click on the titles to open and close the following information sections.
There are a number of benefits and allowances that may be available to you if you have a genetic disorder or care for someone who does. You may also be looking for advice on schooling or statementing, or housing or respite. As a first port of call it’s worth speaking to a member of your social work team or your specialist nurse if you have one, or to your local Citizen’s Advice Bureau.
CAB offers free, independent and confidential advice about debt and consumer issues, benefits, housing, legal matters and employment. They provide assistance with claiming welfare benefits, including practical help with filling out benefit application forms. They offer an on-line facility, or advice face-to-face or by phone. Check your local telephone directory or their website to find your nearest branch.
\r\n\r\n
Other useful sources of information and advice include:
A government website which provides information about a wide range of public services including benefits such as Employment and Support Allowance, Incapacity Benefit, Income Support, Attendance Allowance, Disability Living Allowance and Carer’s Allowance.
\r\n\r\n
There is also a benefits enquiry line that you can call if you would like to speak directly to someone. Details listed below.
\r\n\r\n
Benefits Enquiry Line (BEL)
\r\n\r\n
0800 882 200 (Monday – Friday, 8.30am – 6.30pm; Saturday 9am –1pm) \r\nOffers information about benefits to people, and their carers, with an illness or disability. BEL can send out leaflets and claim packs. The enquiry line also provides assistance, over the phone, with filling out benefit application forms.
\r\n\r\n
Disability Benefits Helpline
\r\n\r\n
0845 712 3456 (Monday – Friday, 7.30am – 6.30pm) \r\nCall to access information on Attendance Allowance and Living Allowance.
The DCS provides information about benefits to people with an illness or disability, and their carers. It is responsible for delivering Attendance Allowance, Disability Living Allowance and Carers’ Allowance. It is part of the Department for Work and Pensions. \r\nIt provides the Benefit Enquire Line (as above) to answer benefit enquiries over the phone. \r\nTel: 0800 882 200 (Monday – Friday, 8.30am – 6.30pm; Saturday 9am – 1pm)
0800 0 55 66 88 (Monday – Friday, 8am – 6pm) \r\nJobcentre Plus supports people of working age who cannot work, or who are looking for work. Provides information and is responsible for delivering Statutory Sick Pay, Employment and Support Allowance, Incapacity Benefit, Carer’s Allowance. Also provides additional financial support to people living on low incomes.
0800 917 7711 (NHS prescription charges) 0845 610 1112 (NHS form line) \r\nWebsite gives information about prescription charges and getting help with health costs. Download leaflet ‘Help with Health Costs’ (HC11 form).
0845 850 0030 (Monday – Friday, 8am – 6pm and Saturday, 9am – 3pm). \r\nTelephone helpline offers information, allows you to order certificate as well as a list of pharmacies able to supply certificates.
0845 300 3900 (8am – 8pm, every day except Christmas Day, Boxing Day and New Years Day) For enquiries about applications or entitlement to tax credits.
If you are travelling to a country within the European Union (or Switzerland) you can apply for a European Health Insurance Card (EHIC). The EHIC enables you to get free or reduced cost emergency treatment within the European Union. It entitles you to the same care as people living in another EU country, which could differ from that available on the NHS. EHIC has replaced the old E111 form and can be obtained from your local post office or by telephoning 0845 606 2030.
\r\n\r\n
Specialist travel insurance companies
\r\n\r\n
There are several travel insurance companies that specialise in providing travel insurance for people with pre-existing medical conditions. Myeloma UK has put together an information sheet with the contact details of several of these companies. To view or download their leaflet go to:
Myeloma is a type of cancer but the companies listed specialise in providing travel insurance for people with a number of pre-existing medical conditions (not solely cancer.)
The DLF aims to make everyday life easier for disabled people, older people and their carers, by giving expert and impartial advice about equipment. Equipment centre displays a wide range of useful gadgets.
GeneReviews are expert-authored, peer-reviewed disease descriptions published on-line. The articles, accessed using their database, include in-depth information on the generics, testing, diagnosis, management, and counselling issues for a wide range of inherited disorders.
The Jewish Medical Association (UK) serves as an umbrella organisation for all Jewish healthcare professionals in the UK. Its work includes: providing social and educational activities for Jewish healthcare students and professionals; providing a public forum for the discussion of Jewish issues in medicine and healthcare; and facilitating and developing medical connections with Israel.
OMIM is a comprehensive and authoritative resource that provides a summary of key scientific research on all know Mendelian disorders and over 12,000 human genes and genetic phenotypes. It is regularly updated and the entries contain extensive links to other resources.
An independent charity involved in research to achieve the responsible application of biomedical science for health. The site provides easy access to a wide range of in-depth resources, reports, papers and links relating to genetics and its practical application in the UK.
If you have a question relating to a particular condition, genetic testing, inheritance or any other Jewish genetic disorder-related issue, simply fill out the form below.
\r\n\r\n
Our genetics information specialist, Sara Levene – an experienced genetic counsellor and one of our Scientific and Medical Advisors – will get back to you as soon as possible with a response.
If you have a question relating to a particular condition, genetic testing, inheritance or any other Jewish genetic disorder-related issue, simply fill out the form below.
\r\n\r\n
Our genetics information specialist, Sara Levene – an experienced genetic counsellor and one of our Scientific and Medical Advisors – will get back to you as soon as possible with a response.
Jnetics is funded entirely by voluntary donations and fundraising activities. The contributions of donors and efforts of voluntary fundraisers are fundamental to the continuation and development of Jnetics’s work.
\r\n\r\n
There are many different ways in which you can help us with our fundraising efforts. We would be delighted to support you with any ideas you have to help us raise money for Jnetics.
\r\n\r\n
Please let us know your plans so that we can help provide you with fundraising materials, which we can tailor to fit your event or activity, and other forms of support to assist your efforts.
\r\n\r\n
Organise your own fundraising event
\r\n\r\n
You may already have a fundraising event in mind, however, here are a few popular ideas for events that could be very enjoyable and serve as a great way to raise funds.
\r\n\r\n
\r\n\r\n
Comedy evening or quiz night
\r\n \r\n
Fancy dress or themed party e.g. 80’s disco night
\r\n \r\n
Coffee morning or cake sale
\r\n \r\n
An open garden event
\r\n \r\n
Fashion show
\r\n\r\n
\r\n\r\n
Collect sponsorship for a personal challenge
\r\n\r\n
Gaining sponsorship to complete a personal challenge is another effective way to help us raise awareness and funds for the work of Jnetics. The challenge could be taking part in:
\r\n\r\n
A physical activity/event e.g. charity run, marathon, cycling, triathlon etc
\r\n \r\n
An adventurous activity e.g. skydiving, mountain climbing, foreign trek etc
\r\n \r\n
Achieving a personal goal e.g. sponsored weight loss
\r\n\r\n
\r\n\r\n
Dedicate gifts in honour of Jnetics
\r\n\r\n
Whatever the special occasion, whether it is a birthday, wedding, or anniversary, why not ask friends and family to make a charitable donation to Jnetics in celebration.
\r\n\r\n
Nominate Jnetics as your Charity of the Year
\r\n\r\n
If you work for an organisation (nursery, school, synagogue etc) or company which has a Charity of the Year scheme and think that Jnetics would be a suitable charity, please nominate us for consideration.
\r\n\r\n
Please do let us know if you are able to help us fundraise in anyway. If you have any questions or would like to discuss a fundraising idea, please send an e-mail to info@jnetics.org.
Jnetics is funded entirely by voluntary donations and fundraising activities. The contributions of donors and efforts of voluntary fundraisers are fundamental to the continuation and development of Jnetics’s work.
\r\n\r\n
There are many different ways in which you can help us with our fundraising efforts. We would be delighted to support you with any ideas you have to help us raise money for Jnetics.
\r\n\r\n
Please let us know your plans so that we can help provide you with fundraising materials, which we can tailor to fit your event or activity, and other forms of support to assist your efforts.
\r\n\r\n
Organise your own fundraising event
\r\n\r\n
You may already have a fundraising event in mind, however, here are a few popular ideas for events that could be very enjoyable and serve as a great way to raise funds.
\r\n\r\n
\r\n\r\n
Comedy evening or quiz night
\r\n \r\n
Fancy dress or themed party e.g. 80’s disco night
\r\n \r\n
Coffee morning or cake sale
\r\n \r\n
An open garden event
\r\n \r\n
Fashion show
\r\n\r\n
\r\n\r\n
Collect sponsorship for a personal challenge
\r\n\r\n
Gaining sponsorship to complete a personal challenge is another effective way to help us raise awareness and funds for the work of Jnetics. The challenge could be taking part in:
\r\n\r\n
A physical activity/event e.g. charity run, marathon, cycling, triathlon etc
\r\n \r\n
An adventurous activity e.g. skydiving, mountain climbing, foreign trek etc
\r\n \r\n
Achieving a personal goal e.g. sponsored weight loss
\r\n\r\n
\r\n\r\n
Dedicate gifts in honour of Jnetics
\r\n\r\n
Whatever the special occasion, whether it is a birthday, wedding, or anniversary, why not ask friends and family to make a charitable donation to Jnetics in celebration.
\r\n\r\n
Nominate Jnetics as your Charity of the Year
\r\n\r\n
If you work for an organisation (nursery, school, synagogue etc) or company which has a Charity of the Year scheme and think that Jnetics would be a suitable charity, please nominate us for consideration.
\r\n\r\n
Please do let us know if you are able to help us fundraise in anyway. If you have any questions or would like to discuss a fundraising idea, please send an e-mail to info@jnetics.org.
Jnetics employs an Executive Director, Project & Programme Manger, Project Research & Development Officer and Project Development Officer,who work closely with our Board of Trustees and expert Scientific and Medical advisors. We also have a team of freelance professionals managing certain areas of activity and delivering specific projects. In addition, we are supported by volunteers who generously share their time and expertise to help progress our work.
\r\n\r\n
Over time and with the necessary funding, Jnetics will employ other staff (e.g. outreach education officer, researcher etc.) to support our project work and enable us to expand our services.
\r\n\r\n
Please click on the titles to open and close the following information sections.
Our Executive Director, Katrina Sarig, is responsible for our strategic direction, delivery of our services, as well as running the day-to-day aspects of the charity:
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Katrina Sarig, \r\nExecutive Director, Jnetics
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Our Project & Programme Manger, Greg Blank, is responsible for managing our key projects, including the GENEius programme, as well as coordinating our screening services and managing our volunteers.
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\r\nOur Project Research & Development Officer, Raquel Lewin, is assisting with the research, development and delivery the GENEius programme and supporting the other on-going Jnetics activities.
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\r\nOur Project Development Officer, Aviva Lewis, is based in our Manchester office, and is responsible for assisting with the research, development and delivery the GENEius programme, developing the organisations activities in the main Jewish communities outside of London, as well as supporting the other on-going Jnetics activities.
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\r\nWe are currently supported by two experienced freelance professionals:
Jnetics is managed by a board of trustees responsible for ensuring that the charity meets its objectives whilst complying with legal obligations under charity and company law. The board provides guidance for the strategic development of the charity and reviews work as it develops.
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Our trustees have experience across charity management, finance and fundraising, marketing and PR, and healthcare.
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Anthony Angel (chairman) \r\n Anthony was the former Worldwide Managing Partner at Linklaters, Executive Managing Director EMEA at Standard & Poor’, Global Co-Chairman at DLA Piper and Trustee and Treasurer of the Cystic Fibrosis Trust before becoming chairman of Jnetics’ board of trustees. Anthony’s son Benjamin died aged 26 from Cystic Fibrosis. He is committed to preventing the suffering and pain of other Jewish families from the death of a child from what are now avoidable genetic diseases.
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Ruth Angel \r\nRuth has been involved with fund raising for charities since the age of 13; first with JNF and then the Shaare Zedek Hospital. Later after her son Benjamin was born with Cystic Fibrosis she began raising funds for the CF Trust and continued to do this on an almost full time basis for the next 26 years. Tragically her son Benjamin died in 2005 at the age of 26 after marrying and later qualifying as a doctor. It was Benjamin’s dearest wish that no one else should be born with Cystic Fibrosis. Ruth is very pleased to be a Trustee for Jnetics and hopes and prays that she can help prevent other families from suffering the loss of a child by encouraging genetic testing.
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Eileen Jacobs, SROT \r\nEileen has many years of experience as an Occupational Therapist, specialising in geriatric medicine and children with special needs. She was a national executive member of British Wizo and is co- founder of charity Cove Park with her husband Peter. As a mother of three and grandmother of nine, her concern is the wellbeing and health of her family and the future of the Jewish community
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Peter Jacobs, BSc, DMS \r\nPeter has held a variety of senior management positions over his career including CEO roles at British Sugar, Beresford International and Bupa. After 8 years as CEO at Bupa he took early retirement to co- found charity Cove Park with his wife Eileen. He has held various chairmanships and non exec. positions including Allied Domeq and the RAF. He firmly believes that Jnetics can make a significant difference to the quality of life of many families and play a leading role in reducing, and hopefully eliminating, a number of extremely serious disorders.
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Ian Pearl, LLB \r\nSolicitor, OGR Stock Denton
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Tammy Rothenberg, BA (Hons) BM BCh MRCPCH MSc (Allergy) \r\nTammy is a paediatrician with two decades of experience in the NHS. She is committed to Jnetics’ aims of improving awareness of Jewish Genetic diseases, improving access to screening, and providing support for those affected by these diseases. She has long experience of working within the NHS, and currently works at Homerton University Hospital, which serves the large Jewish community based around Stamford Hill. She is particularly motived to reduce barriers between different organisations, and work across boundaries to help improve things.
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We were honoured and hugely grateful to have Dr Alan Naftalin, as one of our founding trustees who contributed enormously to our work right up until he passed away in December 2012.
Our expert scientific and medical advisors include scientists, clinicians, researchers and a genetic counsellor who are all specialists in fields relating to Jewish genetic disorders.
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Our advisors guide us on what disorders are appropriate to cover; ensure that our information is accurate and disseminated responsibly; direct our position on testing; and help facilitate collaborative work that support our objectives. \r\n \r\nPlease click on the names for more information about each.
Dr Angela Barnicoat, MD DRCOG FRCP \r\nConsultant Clinical Geneticist, Great Ormond Street Hospital
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Professor Nick Lench \r\nCo-founder and COO of Congenica Ltd, a genomic medicine company based at the Wellcome Genome Campus, Cambridge
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Professor Rosalind Eeles, MA FCRP FRCR PhD \r\nProfessor of Oncogenetics and Honorary Consultant in Clinical Oncology and Cancer Genetics, The Institute of Cancer Research and The Royal Marsden Hospital
Our educational experts are all specialists in fields relating to medical and Jewish education.
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Our advisors guide us on development of the GENEius programme.
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Emma Cravitz, OBE \r\nEmma is an educational psychologist who has worked with children in a number of London schools. She is the co-founder of Eden Primary school, Yeladenu pre-school, and is a governor of JCoSS
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Rabbi Dr Raphael Zarum, MD DRCOG FRCP \r\nRabbi Zarum is a leading Jewish educator and theoretical physicist. He teaches at conferences and seminars, synagogues and Jewish community centres around the world.
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Shelley Marsh, MA \r\nShelley is the Executive Director of Reshet, The Network for Jewish Youth Provision. She is also an advisor to the Paediatric Intensive Care Units Network, training and supporting healthcare professionals in both paediatric and neonatal intensive care units across the UK.
Lord Leslie Turnberg \r\nLord Turnberg is a British medical professional and an author of many publications and books related to the medical and health services fields. His experience extends to areas of research in these fields, and maintaining a clinical practice. He has published four books and some 150 articles on medical and scientific research. He is a Labour Life peer and sits in the House of Lords.
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Lord David Pannick \r\nLord Pannick QC is one of the UK’s most highly regarded advocates, practising in a broad range of areas with a particular emphasis on Public law & Human Rights. In November 2009 he became a Labour Life peer and sits in the House of Lords.
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Professor Patricia Jacobs, DSc, FRS, OBE \r\nProfessor of Human Genetics, University of Southampton\r\nProfessor Jacobs is a world-renown geneticist who has led a wide range of groundbreaking research projects on human chromosome abnormalities. She has authored over 250 articles which investigate the effect of chromosome abnormalities both in individuals with congenital abnormalities and in a wide variety of populations. \r\nShe is a Fellow of the Royal Society, a Foreign Associate of the United States National Academy of Sciences, a founder member of the American Board of Medical Genetics, and a founder member of the Academy of Medical Sciences. In 1999 she was awarded an OBE for services to genetics.
Jnetics employs an Executive Director, Project & Programme Manger, Project Research & Development Officer and Project Development Officer,who work closely with our Board of Trustees and expert Scientific and Medical advisors. We also have a team of freelance professionals managing certain areas of activity and delivering specific projects. In addition, we are supported by volunteers who generously share their time and expertise to help progress our work.
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Over time and with the necessary funding, Jnetics will employ other staff (e.g. outreach education officer, researcher etc.) to support our project work and enable us to expand our services.
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Please click on the titles to open and close the following information sections.
Our Executive Director, Katrina Sarig, is responsible for our strategic direction, delivery of our services, as well as running the day-to-day aspects of the charity:
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Katrina Sarig, \r\nExecutive Director, Jnetics
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Our Project & Programme Manger, Greg Blank, is responsible for managing our key projects, including the GENEius programme, as well as coordinating our screening services and managing our volunteers.
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\r\nOur Project Research & Development Officer, Raquel Lewin, is assisting with the research, development and delivery the GENEius programme and supporting the other on-going Jnetics activities.
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\r\nOur Project Development Officer, Aviva Lewis, is based in our Manchester office, and is responsible for assisting with the research, development and delivery the GENEius programme, developing the organisations activities in the main Jewish communities outside of London, as well as supporting the other on-going Jnetics activities.
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\r\nWe are currently supported by two experienced freelance professionals:
Jnetics is managed by a board of trustees responsible for ensuring that the charity meets its objectives whilst complying with legal obligations under charity and company law. The board provides guidance for the strategic development of the charity and reviews work as it develops.
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Our trustees have experience across charity management, finance and fundraising, marketing and PR, and healthcare.
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Anthony Angel (chairman) \r\n Anthony was the former Worldwide Managing Partner at Linklaters, Executive Managing Director EMEA at Standard & Poor’, Global Co-Chairman at DLA Piper and Trustee and Treasurer of the Cystic Fibrosis Trust before becoming chairman of Jnetics’ board of trustees. Anthony’s son Benjamin died aged 26 from Cystic Fibrosis. He is committed to preventing the suffering and pain of other Jewish families from the death of a child from what are now avoidable genetic diseases.
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Ruth Angel \r\nRuth has been involved with fund raising for charities since the age of 13; first with JNF and then the Shaare Zedek Hospital. Later after her son Benjamin was born with Cystic Fibrosis she began raising funds for the CF Trust and continued to do this on an almost full time basis for the next 26 years. Tragically her son Benjamin died in 2005 at the age of 26 after marrying and later qualifying as a doctor. It was Benjamin’s dearest wish that no one else should be born with Cystic Fibrosis. Ruth is very pleased to be a Trustee for Jnetics and hopes and prays that she can help prevent other families from suffering the loss of a child by encouraging genetic testing.
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Eileen Jacobs, SROT \r\nEileen has many years of experience as an Occupational Therapist, specialising in geriatric medicine and children with special needs. She was a national executive member of British Wizo and is co- founder of charity Cove Park with her husband Peter. As a mother of three and grandmother of nine, her concern is the wellbeing and health of her family and the future of the Jewish community
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Peter Jacobs, BSc, DMS \r\nPeter has held a variety of senior management positions over his career including CEO roles at British Sugar, Beresford International and Bupa. After 8 years as CEO at Bupa he took early retirement to co- found charity Cove Park with his wife Eileen. He has held various chairmanships and non exec. positions including Allied Domeq and the RAF. He firmly believes that Jnetics can make a significant difference to the quality of life of many families and play a leading role in reducing, and hopefully eliminating, a number of extremely serious disorders.
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Ian Pearl, LLB \r\nSolicitor, OGR Stock Denton
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Tammy Rothenberg, BA (Hons) BM BCh MRCPCH MSc (Allergy) \r\nTammy is a paediatrician with two decades of experience in the NHS. She is committed to Jnetics’ aims of improving awareness of Jewish Genetic diseases, improving access to screening, and providing support for those affected by these diseases. She has long experience of working within the NHS, and currently works at Homerton University Hospital, which serves the large Jewish community based around Stamford Hill. She is particularly motived to reduce barriers between different organisations, and work across boundaries to help improve things.
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We were honoured and hugely grateful to have Dr Alan Naftalin, as one of our founding trustees who contributed enormously to our work right up until he passed away in December 2012.
Our expert scientific and medical advisors include scientists, clinicians, researchers and a genetic counsellor who are all specialists in fields relating to Jewish genetic disorders.
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Our advisors guide us on what disorders are appropriate to cover; ensure that our information is accurate and disseminated responsibly; direct our position on testing; and help facilitate collaborative work that support our objectives. \r\n \r\nPlease click on the names for more information about each.
Dr Angela Barnicoat, MD DRCOG FRCP \r\nConsultant Clinical Geneticist, Great Ormond Street Hospital
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Professor Nick Lench \r\nCo-founder and COO of Congenica Ltd, a genomic medicine company based at the Wellcome Genome Campus, Cambridge
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Professor Rosalind Eeles, MA FCRP FRCR PhD \r\nProfessor of Oncogenetics and Honorary Consultant in Clinical Oncology and Cancer Genetics, The Institute of Cancer Research and The Royal Marsden Hospital
Our educational experts are all specialists in fields relating to medical and Jewish education.
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Our advisors guide us on development of the GENEius programme.
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Emma Cravitz, OBE \r\nEmma is an educational psychologist who has worked with children in a number of London schools. She is the co-founder of Eden Primary school, Yeladenu pre-school, and is a governor of JCoSS
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Rabbi Dr Raphael Zarum, MD DRCOG FRCP \r\nRabbi Zarum is a leading Jewish educator and theoretical physicist. He teaches at conferences and seminars, synagogues and Jewish community centres around the world.
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Shelley Marsh, MA \r\nShelley is the Executive Director of Reshet, The Network for Jewish Youth Provision. She is also an advisor to the Paediatric Intensive Care Units Network, training and supporting healthcare professionals in both paediatric and neonatal intensive care units across the UK.
Lord Leslie Turnberg \r\nLord Turnberg is a British medical professional and an author of many publications and books related to the medical and health services fields. His experience extends to areas of research in these fields, and maintaining a clinical practice. He has published four books and some 150 articles on medical and scientific research. He is a Labour Life peer and sits in the House of Lords.
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Lord David Pannick \r\nLord Pannick QC is one of the UK’s most highly regarded advocates, practising in a broad range of areas with a particular emphasis on Public law & Human Rights. In November 2009 he became a Labour Life peer and sits in the House of Lords.
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Professor Patricia Jacobs, DSc, FRS, OBE \r\nProfessor of Human Genetics, University of Southampton\r\nProfessor Jacobs is a world-renown geneticist who has led a wide range of groundbreaking research projects on human chromosome abnormalities. She has authored over 250 articles which investigate the effect of chromosome abnormalities both in individuals with congenital abnormalities and in a wide variety of populations. \r\nShe is a Fellow of the Royal Society, a Foreign Associate of the United States National Academy of Sciences, a founder member of the American Board of Medical Genetics, and a founder member of the Academy of Medical Sciences. In 1999 she was awarded an OBE for services to genetics.
Jnetics is involved in a wide range of activities that focus on three core areas: raising awareness, providing information, and improving testing options as outlined below.
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These areas reflect the main objectives of the charity and address the priority needs identified in our review of Jewish genetic disorders in the UK. Over time, we will build on our work in these areas and respond to developing needs in accordance with the resources that we have available.
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Raising awareness
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Our activities include PR campaigns in the Jewish press and via social media channels; presentations and group discussions at synagogues, Jewish organisations and schools; and targeted events with rabbis, community leaders and medical professionals.
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Providing information
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Through our website and other resources we help enable people to find the best information, services and support in the UK for those affected by Jewish genetic disorders. All are information is provided impartially and without judgement, helping people to manage their situations in the way that best fits their personal beliefs and circumstances.
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With funding from Jeans for Genes we have developed a ‘signposting’ service that includes a facility to send individual questions directly, and in confidence, to our genetics information specialist.
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Improving testing options
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Tay-Sachs is currently the only Jewish genetic disorder for which carrier testing is available on the NHS to anyone of Ashkenazi Jewish ancestry.
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We are working to improve access to genetic testing for other severe disorders that is responsibly delivered and affordable. \r\n
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If you are interested in helping us to progress our activities, please visit our get involved section.
Jnetics is involved in a wide range of activities that focus on three core areas: raising awareness, providing information, and improving testing options as outlined below.
\r\n\r\n
These areas reflect the main objectives of the charity and address the priority needs identified in our review of Jewish genetic disorders in the UK. Over time, we will build on our work in these areas and respond to developing needs in accordance with the resources that we have available.
\r\n\r\n
Raising awareness
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Our activities include PR campaigns in the Jewish press and via social media channels; presentations and group discussions at synagogues, Jewish organisations and schools; and targeted events with rabbis, community leaders and medical professionals.
\r\n\r\n
Providing information
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Through our website and other resources we help enable people to find the best information, services and support in the UK for those affected by Jewish genetic disorders. All are information is provided impartially and without judgement, helping people to manage their situations in the way that best fits their personal beliefs and circumstances.
\r\n\r\n
With funding from Jeans for Genes we have developed a ‘signposting’ service that includes a facility to send individual questions directly, and in confidence, to our genetics information specialist.
\r\n\r\n
Improving testing options
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Tay-Sachs is currently the only Jewish genetic disorder for which carrier testing is available on the NHS to anyone of Ashkenazi Jewish ancestry.
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We are working to improve access to genetic testing for other severe disorders that is responsibly delivered and affordable. \r\n
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If you are interested in helping us to progress our activities, please visit our get involved section.
Jnetics London \r\nSolar House \r\nThe Brentano Suite \r\n915 High Road \r\nFinchley \r\nLondon \r\nN12 8QJ
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Jnetics Manchester \r\nHeathlands Village \r\nHeathlands Drive \r\nPrestwich \r\nManchester \r\nM25 0SB \r\n
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Telephone:
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Jnetics London \r\n020 8123 5022
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Jnetics Manchester \r\n0161 772 4895
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About Jewish genetic disorders and testing
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If you have any individual questions about anything relating to Jewish genetic disorders, please write to our dedicated information officer with specialist expertise via the following e-mail link:
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Genetics information specialist: Got a question? Click here \r\n \r\nPlease note that we cannot provide medical advice concerning individual symptoms, diagnoses or treatments and recommend that you consult your doctor regarding these issues.
Jnetics London \r\nSolar House \r\nThe Brentano Suite \r\n915 High Road \r\nFinchley \r\nLondon \r\nN12 8QJ
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Jnetics Manchester \r\nHeathlands Village \r\nHeathlands Drive \r\nPrestwich \r\nManchester \r\nM25 0SB \r\n
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Telephone:
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Jnetics London \r\n020 8123 5022
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Jnetics Manchester \r\n0161 772 4895
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About Jewish genetic disorders and testing
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If you have any individual questions about anything relating to Jewish genetic disorders, please write to our dedicated information officer with specialist expertise via the following e-mail link:
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Genetics information specialist: Got a question? Click here \r\n \r\nPlease note that we cannot provide medical advice concerning individual symptoms, diagnoses or treatments and recommend that you consult your doctor regarding these issues.
Please join us for our first fundraising and networking breakfast, with a special guest speaker; Jonathan Freedland; journalist, author and broadcaster\r\nTuesday 13th March 2018 | 0730 arrival | 0800 - 0930 breakfast\r\nCentral London Hotel\r\n\r\n\r\n...
In November, Jnetics officially opened a second office based in Prestwich, Manchester. It is situated in The Fed, Manchester’s major Jewish social care charity, providing an ideal community location for the new premises. Aviva Lewis, the new Programme Development Officer, who was previously employed...
This month, Jnetics is going to set a record. By the end of the day on 20th of December, the GENEius programme will have been successfully delivered in three Jewish high schools in London, and all in just six weeks. \r\n\r\nGENEius is Jnetics’ education and...
This week The Jewish Chronicle followed their special edition on genetic illnesses last November by publishing a news feature emphasising the lifesaving tests that we provide. \r\n\r\nThrough an interview with the Jnetics Executive Director, Katrina Sarig, The Jewish Chronicle highlighted how we provide services that...
We had a great turnout of 22 people at our community screening event held at our offices on the 12th July. A huge thank you to our amazing volunteers and all those who attended. \r\n\r\nIf you are interested in being screened for Jewish genetic disorders,...
For Jnetics, The Maccabi Fun Run 2017 on Sunday 11th June was an incredible success.\r\n\r\nNot only did we have a record number of runners- a grand total of 70, but the sponsorship money raised has already exceeded last year’s total. \r\n\r\nWhat’s more, the winner...
Please join us for our first fundraising and networking breakfast, with a special guest speaker; Jonathan Freedland; journalist, author and broadcaster\r\nTuesday 13th March 2018 | 0730 arrival | 0800 - 0930 breakfast\r\nCentral London Hotel\r\n\r\n\r\n...
In November, Jnetics officially opened a second office based in Prestwich, Manchester. It is situated in The Fed, Manchester’s major Jewish social care charity, providing an ideal community location for the new premises. Aviva Lewis, the new Programme Development Officer, who was previously employed...
This month, Jnetics is going to set a record. By the end of the day on 20th of December, the GENEius programme will have been successfully delivered in three Jewish high schools in London, and all in just six weeks. \r\n\r\nGENEius is Jnetics’ education and...
This week The Jewish Chronicle followed their special edition on genetic illnesses last November by publishing a news feature emphasising the lifesaving tests that we provide. \r\n\r\nThrough an interview with the Jnetics Executive Director, Katrina Sarig, The Jewish Chronicle highlighted how we provide services that...
We had a great turnout of 22 people at our community screening event held at our offices on the 12th July. A huge thank you to our amazing volunteers and all those who attended. \r\n\r\nIf you are interested in being screened for Jewish genetic disorders,...
For Jnetics, The Maccabi Fun Run 2017 on Sunday 11th June was an incredible success.\r\n\r\nNot only did we have a record number of runners- a grand total of 70, but the sponsorship money raised has already exceeded last year’s total. \r\n\r\nWhat’s more, the winner...
This month, Jnetics is going to set a record. By the end of the day on 20th of December, the GENEius programme will have been successfully delivered in three Jewish high schools in London, and all in just six weeks.
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GENEius is Jnetics’ education and screening programme, launched just over a year ago. It is aimed at Year 12 students in Jewish high schools, and has to key element- education and screening. First, students attend an interactive session where they are introduced to the concept of Jewish genetic disorders (JGDs). There is a particular focus on severe recessive JGDs and the importance of carrier screening in their prevention. A week or so later, the Jnetics team returns to the school to run an optional carrier screening event. By choosing to taking part in the event, students can find out if they carry one (or more) of nine severe recessive JGDs, providing them with important information for their future.
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In the 6 weeks spanning from early November to Mid-December, Year 12 students in three of the main Jewish high schools in London will have had the privilege of taking part in GENEius. Since the second week of November, the programme has already been smoothly delivered in JCoSS and Yavneh College and in-so-doing, Jnetics have educated approximately 250 students, and screened just under 180. In the coming week, the team will be attending King Solomon High school in Essex twice- once for the education session and once for the optional GENEius screening event.
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What’s more, by end of 2017, Jnetics will have delivered GENEius in 6 high schools, exceeding the target set for the programme’s first year. Amazingly, this total will increase to 8 schools in 2018, and will include King David High School in Manchester too.
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Visit the Jnetics/GENEius Facebook, Twitter and Instagram to see the GENEius programme in action and watch out for further updates on this page of our the Jnetics website.
This week The Jewish Chronicle followed their special edition on genetic illnesses last November by publishing a news feature emphasising the lifesaving tests that we provide.
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Through an interview with the Jnetics Executive Director, Katrina Sarig, The Jewish Chronicle highlighted how we provide services that have the potential to eliminate the tragic and utterly preventable genetic conditions that are so prevalent within the Jewish community today.
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One such service is the clinic that we are opening together with the NHS in Barnet Hospital. Gael Ganz, a genetic counsellor within the North West Regional Genetics Service who regularly works together with Jnetics, described this to the Jewish Chronicle as an exciting development that is important in bringing the level of care in UK Jewish community up to par with everywhere else.
Moreover, the Jewish Chronicle spoke to students who had taken part in the GENEius programme. These students gave personal accounts of their experience with us, and strongly recommend that other students utilise the valuable services that Jnetics provide. As Larra Murray points out The Jewish Chronicle, their is no price you would put on something so essential to the health of your future children.
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If you would like to be screened, we are hosting a screening event this Tuesday evening, 12th September. You can sign up for this by following this link.
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Lastly, as described in The Jewish Chronicle’s leader article, we rely on generous donations in order for us to continue to deliver and expand on the vital services that we offer. If you are able to contribute please donate by following this link.
We had a great turnout of 22 people at our community screening event held at our offices on the 12th July. A huge thank you to our amazing volunteers and all those who attended.
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If you are interested in being screened for Jewish genetic disorders, send us an email screening@jnetics.org and we will contact you when registration opens for our next event.
For Jnetics, The Maccabi Fun Run 2017 on Sunday 11th June was an incredible success.
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Not only did we have a record number of runners- a grand total of 70, but the sponsorship money raised has already exceeded last year’s total.
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What’s more, the winner of the 10K race was a member of Team Jnetics- Charlie Hillman. He completed the full distance in an astounding 38 minutes.
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There were 9 other Jnetics runners that completed the 10K run too. Over 50 participated in the 5K run, 2 in the 1K and 2 members of Team Jnetics decided to do all 3 races.
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A constant stream of children and adults visited the Jnetics stand in the Fun Run Charity Fair. Children made DNA sweets and a prize was up-for-grabs for the person who completed our ‘DNA Break the Code Challenge’ in the shortest amount of time.
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To see pictures taken on the day by photographer Emily Munster click here.
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Lastly, our donation page is still live. Visit it now to show us your support and help Jnetics continue to deliver the vital community service it does.
This section includes links to patient groups and other resources that offer information and support relating to the different conditions covered by Jnetics.
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Please click each of the disorders listed below to go to the page relevant to that condition and then click on the “Further information and support” button at the bottom of that page.
This section includes links to patient groups and other resources that offer information and support relating to the different conditions covered by Jnetics.
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Please click each of the disorders listed below to go to the page relevant to that condition and then click on the “Further information and support” button at the bottom of that page.
This section includes links to a number of umbrella organisations that provide general information, advocacy and support for a wide spectrum of genetic conditions - including many of the disorders covered by Jnetics.
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These groups may be particularly useful for conditions that have no dedicated patient group themselves e.g. Canavan disease and Bloom syndrome. \r\n
CLIMB is a national organisation working on behalf of children, young people and families affected by inherited metabolic diseases. It covers 730 inherited disorders, providing information and support and funding education and research programmes.
This established UK-wide charity provides advice, information and support services to the parents of all disabled children. The site includes information on over 1200 disabilities and conditions, links to support groups, database for networking other families, and service details.
Genetic Alliance UK, previously the Genetics Interest Group (GIG), is a national charity of over 130 patient organisations that seeks to improve the lives of all people affected by genetic conditions. It promotes awareness and understanding of genetic disorders and actively campaigns for high quality services to be developed and made available to all who need them.
A UK-based children’s charity dedicated to raising funds to provide care for those affected by genetic disorders, and to support ongoing research. The site provides details of their extensive activities and has a good information section to help people understand genetic disorders.
This section includes links to a number of umbrella organisations that provide general information, advocacy and support for a wide spectrum of genetic conditions - including many of the disorders covered by Jnetics.
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These groups may be particularly useful for conditions that have no dedicated patient group themselves e.g. Canavan disease and Bloom syndrome. \r\n
CLIMB is a national organisation working on behalf of children, young people and families affected by inherited metabolic diseases. It covers 730 inherited disorders, providing information and support and funding education and research programmes.
This established UK-wide charity provides advice, information and support services to the parents of all disabled children. The site includes information on over 1200 disabilities and conditions, links to support groups, database for networking other families, and service details.
Genetic Alliance UK, previously the Genetics Interest Group (GIG), is a national charity of over 130 patient organisations that seeks to improve the lives of all people affected by genetic conditions. It promotes awareness and understanding of genetic disorders and actively campaigns for high quality services to be developed and made available to all who need them.
A UK-based children’s charity dedicated to raising funds to provide care for those affected by genetic disorders, and to support ongoing research. The site provides details of their extensive activities and has a good information section to help people understand genetic disorders.
This section contains links to key international resources established to promote awareness, screening and research into Jewish genetic disorders. \r\n
The Center provides extensive education and screening programmes to increase awareness and improve prevention of JGD and hereditary cancers. This site presents information about the disorders, screening and testing, activities of the charity, and other resources and links.
The Centers (based Philadelphia, Boston, and Miami) provide Jewish community education and screening programmes for those at risk of being carriers of a JGD. This site offers information about the disorders, screening and testing, activities of the charity, and other resources and links including video and audio files with testimonials from affected families.
The first center in the world focused primarily on diseases that affect Ashkenazi Jews. The Center works to improve the diagnosis, treatment, and counselling of patients and their families and to conduct intensive research to combat these diseases.
The site presents a database of inherited disorders in the Israeli population – including Ashkenazi Jewish, non-Ashkenazi Jewish and non-Jewish populations. Information is available on a wide spectrum of genetic disorders that can be accessed using the ‘search’ page which categorizes conditions prevalent in different population groups.
This section contains links to key international resources established to promote awareness, screening and research into Jewish genetic disorders. \r\n
The Center provides extensive education and screening programmes to increase awareness and improve prevention of JGD and hereditary cancers. This site presents information about the disorders, screening and testing, activities of the charity, and other resources and links.
The Centers (based Philadelphia, Boston, and Miami) provide Jewish community education and screening programmes for those at risk of being carriers of a JGD. This site offers information about the disorders, screening and testing, activities of the charity, and other resources and links including video and audio files with testimonials from affected families.
The first center in the world focused primarily on diseases that affect Ashkenazi Jews. The Center works to improve the diagnosis, treatment, and counselling of patients and their families and to conduct intensive research to combat these diseases.
The site presents a database of inherited disorders in the Israeli population – including Ashkenazi Jewish, non-Ashkenazi Jewish and non-Jewish populations. Information is available on a wide spectrum of genetic disorders that can be accessed using the ‘search’ page which categorizes conditions prevalent in different population groups.
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