CJG Blog

Center for Jewish Genetics blog

Dystonia Awareness Month

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By Dennis Kessler, Board Member and Former Board Chair

In 1978, our son Art was diagnosed with "generalized dystonia." My wife, Barbara, and I were pleased to have a diagnosis after a three-year search, but devastated to learn the possible progression of this movement disorder. Dystonia is a condition in which muscles contract by themselves, and they often contract too much. When dystonia affects broad regions of the body, it is known as generalized dystonia. Dystonia is one of the disorders more common in the Jewish community. 

We didn't know where to turn. Luckily we found the Dystonia Medical Research Foundation. The education and support we received from this patient advocacy group was and remains invaluable.

In 1999, I and a few others founded the Center for Jewish Genetics (now the Norton & Elaine Sarnoff Center for Jewish Genetics). We founded the Center with the goal of educating the Jewish community about Jewish genetic disorders and helping carriers of these disorders to understand their family planning options. Later, we added subsidized genetic screening.*

One in four Ashkenazi Jews is a carrier of one of 19 recessive genetic disorders seen more frequently in the Jewish population, but most do not know it. Science has now developed ways that we can test for these 19 disorders – and many others – with a simple saliva test. The Center’s genetic counselor delivers results to every participant in our carrier screening program and can help carrier couples understand their options and plan for a healthy family. Our goal is to empower individuals with the knowledge to make informed decisions.

When the Center was founded, there was no technology available that would allow our son Art and his wife Wendy to be sure their natural born children would not inherit the genetic mutation that causes dystonia. Since the time of their marriage, medical science has developed new technology called PGD (Pre-implantation Genetic Diagnosis) to help couples like them avoid this situation. Thanks to the work that was done by the Dystonia Medical Research Foundation in discovering the gene responsible for dystonia, and with the assistance of PGD, Art and Wendy have given birth to two children who do not carry mutations in the gene associated with dystonia.

We have stopped dystonia from being passed on to subsequent generations in our family.

That is how the work of the Center has changed the lives of my children and grandchildren as well as hundreds of families. We are "Changing Jewish History," one family at a time. It is an honor to be part of such an important endeavor.

* Dystonia is an autosomal dominant condition that occurs with increased frequency in the Jewish community. Screening for dystonia is not currently available through the Center’s carrier screening program, which focuses on autosomal recessive and X-linked conditions. If you have questions or would like additional information, please contact our genetic counselor. 

Popular Parenting Podcast Discusses Carrier Screening & Jewish Genetic Health

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We were pleased to hear the Sarnoff Center’s friend Bonnie Rochman featured on The Longest Shortest Time, a popular parenting podcast. In a recent episode about “Genetic Future-Telling,” Bonnie and podcast host and creator Hillary Frank explore genetic testing, family planning, and parenthood. Their conversation about carrier screening and genetic health is particularly relevant to our community, which faces an increased risk of certain recessive disorders and BRCA mutations. While we applaud the show for bringing attention to these important topics, we want to provide listeners with additional information and clarification on a few points:

  • Today, carrier screening can be done with a saliva sample using Next Generation Sequencing to provide the most accurate detection rates. Many people who receive carrier screening complete it from the comfort and convenience of their own home by mailing a saliva sample to a laboratory as part of a screening program. This eliminates the need for a blood draw in many cases.
  • Who should be screened and when? Ideally, individuals should receive carrier screening prior to pregnancy. Couples who know their carrier status beforehand have the most options when planning for a family. Even those who choose not to alter their family planning approach may benefit from knowledge that can help them prepare if a future child needs early intervention. While the podcast mainly focuses on carrier screening for women, men should also consider screening as part of family planning.
  • Hillary and Bonnie touch on the fact that BRCA mutations significantly increase the risk of breast cancer in both men and women. Another key part of the message: BRCA mutations also significantly increase the risk of other cancers, most notably ovarian cancer in women and pancreatic cancer in men and women. BRCA mutations are 10 times more common among Jewish and interfaith families than the general population. 

You can listen to the August 9 episode here. Already listened? We’d love to hear your thoughts on the conversation.

If you have questions about genetic health, please contact the Norton & Elaine Sarnoff Center for Jewish Genetics to learn more about available resources or speak with our genetic counselor. 

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Affordable, Accessible Genetic Screening in Illinois

Our affordable, accessible carrier screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Visit our Get Screened page to learn more and register.

CJG-Whats-In-Your-Genes

Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Talk to your relatives for warning signs and assess your risk for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more .