Brides- and grooms-to-be: here’s one wedding gift that will provide you with the most precious thing of all, a healthy family. Anyone over the age of 16 can now receive FREE Jewish genetic disease screening from The Hospital For Sick Children in Toronto*. While most Jews have heard of Tay-Sachs disease, many are unaware that there are other genetic diseases that occur at a higher rate in people of Ashkenazi Jewish descent. The other diseases that may be included in the Ashkenazi Jewish panel (group of diseases) are Canavan disease, Niemann-Pick disease, Gaucher disease, Bloom syndrome, Fanconi anemia, Familial Dysautonomia, Mucolipidosis IV, and Glycogen Storage Disorder Type 1a. In addition, as Caucasians, Ashkenazi Jewish individuals are at risk to be carriers of Cystic fibrosis. The carrier rates for the individual diseases in the Ashkenazi Jewish community range from one in fourteen to one in 140, but when looking at the whole panel, there is a one in four chance that an Ashkenazi Jewish person is a carrier of one or more of these diseases. Gaucher disease is the only one of these diseases for which there is treatment. The others range in severity, from those that cause varying levels of physical and mental handicap, to those that cause death in early childhood. For a fairly complete listing and explanation of all Jewish Related Genetic Disorders (around 30 different disorders that can be tested for at this time) visit the MazorGuide to Jewish Genetic Diseases.
Please note that as of this writing only one of the 7 major Jewish genetic disorders, Gaucher disease, is treatable. All other programs looking for cures or treatments are either University or Government funded or receive grants and sponsorship from charitable foundations. To support ongoing research into the treatment of Neurogenerative Disorders: please contribute to
How are these diseases inherited?
In the nucleus of every cell in the body there are 46 chromosomes. Each chromosome is a package that holds many genes. Our genes contain DNA, the set of instructions that makes up who we are. All chromosomes (and the genes that are on those chromosomes) come in pairs. We receive one member of each pair of chromosomes from our mother and the other member of the pair from our father. Sometimes there is a change in a gene (called a mutation) that causes the gene to malfunction. All of the above-mentioned conditions are inherited in an autosomal recessive manner. This means that an affected person has a change in both genes of the pair of genes, one change inherited from each parent. Neither gene in the pair is working properly, which causes the symptoms of the disease. A carrier is someone who has a change in only one gene of the pair of genes. Carriers are healthy individuals who are only at risk for passing the gene change on to their children. Most often these diseases occur in families with no prior history of the disease.
What if we’re both carriers?
A person who is a carrier of one of these diseases is only at risk to have an affected child if the person’s partner is also a carrier of the same disease, in which case the couple has a 25% chance, with each pregnancy, of having an affected child. Until very recently, options for these couples were limited to adoption, using donor eggs or sperm, prenatal testing, or not having children together. A recently developed process called Preimplantation Genetic Diagnosis, or PGD, can now be used in conjunction with In-Vitro Fertilization to give couples the ability to determine which embryos are healthy before they are implanted in the woman’s womb. PGD has only become widely available within the last year or two, and its development is significant because, for the first time, carrier-carrier couples have the opportunity to have healthy children who are genetically their own without having to face the decision of whether or not to terminate an affected pregnancy.
The success of the first wave of Tay-Sachs screening in the 1970s has lowered the number of births of children with Tay-Sachs disease significantly, leading to the false idea that the disease no longer exists. However, carriers are healthy individuals who simply carry a gene mutation that can be passed on to their children. The disease may not occur often anymore, but the gene remains present and, without screening, a new generation of Tay-Sachs babies will be born.
Reprinted from: The Chicago Center for Jewish Genetic Disorders
Dor Yeshorim is an international, confidential genetic screening system used mainly by Orthodox Jews, which attempts to prevent the transmission of genetic disorders that have an increased frequency among members of the Ashkenazi Jewish community. The system was established to follow Jewish law, under which abortion is not allowed, while acknowledging that testing might prevent the birth of an affected child. Designed in the early 1980s by an Orthodox rabbi, the system tests young adults before they begin to contemplate marriage. Participants can then use the system to learn their genetic compatibility with potential marital partners.
For interested participants, a simple blood test is all that is necessary to be tested for ten disorders: Tay-Sachs disease, cystic fibrosis, Canavan disease, familial dysautonomia, Fanconi anemia type C, Bloom’s syndrome, Gaucher disease type I, mucolipidosis type IV, glycogen storage disorder type I, and Niemann-Pick disease. Participants are given an identification number but not their actual results. Anonymity is required to avoid unjustified stigmas or embarrassment to the individual or other family members. Participants are responsible for keeping track of their identification number. In the event that the identification number is lost, the results are irretrievable, and the participant would be required to pay for a second blood test.
When partners are introduced or are contemplating engagement, they submit their numbers and birthdates to Dor Yeshorim by telephone. Upon comparison, the match is considered to be compatible as long as both parties are not carriers of the same recessive trait. Each member of the couple may be a carrier for a different disorder, but that information is not revealed as it does not affect their compatibility as a couple. If the couple is not compatible, Dor Yeshorim provides genetic counseling over the phone and referrals for additional genetic counseling in the participants’ area as needed.
If individuals have used this system in the past, Dor Yeshorim can update testing for any of the diseases for which screening is now available, such as familial dysautonomia. If individuals have received testing anywhere other than Dor Yeshorim, or are already engaged or married, they will not be able to use the Dor Yeshorim system.
The program costs about $200, and results typically take between two to three weeks.
For more information about Dor Yeshorim, call their New York office at (718) 384-6060
*The article by Lauren Gross which inspired the above, originally promised free testing in the Philadelphia area at the Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center however, free testing is now only available on a limited basis. The Kaiserman Ashkenazi Jewish Genetic Disease Screening Program at Albert Einstein Medical does try to ensures that screening is accessible to everyone: screening for seven diseases is offered free to students and to engaged and newlywed couples who qualify for the program, and is often covered by insurance for people who do not fall into those categories. Most Screening programs have genetic counselors available for consultations before and after screening, and the Center provides information, resource materials, and referrals to callers from throughout the country. In addition to their outreach efforts in the local community, the Victor Center’s staff has also worked to put Jewish genetic disease screening on the national agenda, both in the Jewish community and in the medical community. At the 54th annual meeting of the American Society of Human Genetics, Adele Schneider, MD, FACMG, Einstein’s Director of Clinical Genetics, presented a poster and a peer-reviewed abstract about the success of the Jewish genetic disease screening program. Schneider and her team have also worked with Jewish communities in Omaha and other cities to establish similar programs. While each individual must make their own personal decision on screening, the Jewish community must come together to raise awareness of this issue. Other sources for Jewish Genetic Counselling & Screening Programs across the US, in Canada and in Israel can be found at The MazorGuide to Jewish Genetic Diseases, The Chicago Center for Jewish Genetic Disorders and The Canadian Foundation for Control of Neurodegenerative Disease
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