CJG Blog

Center for Jewish Genetics blog

Rare Disease Day and Jewish Genetic Disorders

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By Carol Guzman

This year, Rare Disease Day falls on the rarest day on the calendar: Feb. 29. Rare Disease Day helps raise public awareness about rare diseases and the impact that they have on patients’ and loved ones’ lives. Though an international event, it’s led in the U.S. by the National Organization for Rare Disorders, or NORD.

According to a 2019 study, there are more than 6,000 rare diseases around the world, and over 72% of them are genetic. Rare diseases affect people all around the world, but a person’s ancestral and genetic background can affect the likelihood that they carry certain rare conditions. It is estimated that at least 1 in 4 people of Jewish descent are carriers for so-called Jewish genetic conditions, which received their name because individuals with Jewish ancestry carry changes for these diseases 20 to 100 times more frequently than among the general population. A majority of the 51 Jewish genetic diseases included on the Sarnoff Center’s carrier screening panel qualify as “rare” diseases because they affect fewer than 200,000 people in the U.S.

In honor of Rare Disease Day, we hope to bring light to two perhaps lesser known Jewish genetic disorders: Gaucher disease and Canavan disease.

Gaucher disease type 1 is the most prevalent inherited disorder among people of Jewish decent. One in 15 people of Ashkenazi Jewish ancestry and 1 in 125 people of Sephardic Jewish ancestry are carriers for Gaucher. The disease itself affects 1 in 500 Jewish people of Ashkenazi descent.

For comparison, the better known Tay-Sachs disease has a carrier frequency rate of 1 in 27 among Ashkenazi Jews and 1 in 125 among Sephardic Jews.

Gaucher disease occurs when a mutation in the GBA gene harms an enzyme’s ability to break down certain fat molecules, which can lead to toxic levels of the fat building inside the spleen, liver and bone marrow cells. There are various Gaucher disease types because the accumulation of the fat molecule can affect the brain and body in various ways. Gaucher symptoms include a swollen belly, bone pain, anemia and bleeding or bruising. Because these symptoms are so common and vague, many cases of Gaucher go misdiagnosed.

While carriers of recessive disorders are generally healthy and do not often experience symptoms of the conditions, studies indicate that carriers with a specific mutation for Gaucher disease may also have an increased risk of developing Parkinson’s disease.

Another disease that has one of the highest carrier frequency rates in the Jewish population is Canavan disease. One in 57 people of Ashkenazi Jewish ancestry are carriers for Canavan, versus 1 in 159 people in the general population. Various mutations in the ASPA gene stop brain nerve cells from properly sending or receiving information, causing a slow degradation of the brain’s white matter. Children with the disorder typically have a larger head, poor motor skills, weak muscle tone, and difficulty eating and sleeping. Modern medicine can treat Canavan’s symptoms, but there is no U.S. Food and Drug Administration-approved cure or treatment for Canavan disease.

Unfortunately, Canavan disease is not an outlier. More than 90% of rare diseases do not have an FDA-approved treatment. On March 4, patients, their families, and medical professionals will be going to Springfield, the Illinois state capital, to meet with Illinois legislators and advocate for better opportunities and care for rare disease patients. See how you can get involved in raising awareness of rare diseases and how you can support more than 300 million affected people around the world at rarediseaseday.org.

Engaged? Jewish Traditions Before a Wedding

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By Carol Guzman

Believe it or not, Valentine’s Day is one of the most popular days to get engaged. Perhaps, like me, you’ve noticed a lot more engagement notifications or engagement photoshoots show up on your Facebook feed. According to Brides, there is an uptick of engagements that take place during December through March. As many of my friends prepare to take the next step in their relationship (MAZEL TOV!) below are some Jewish customs that couples may partake in during their engagement.

  • Have a family member or close friend throw you a L’ Chaim: Similar to an engagement party, a l’chaim is a celebration where an engaged couple’s family and friends gather together to congratulate the couple as they begin to plan for their big day.
  • Tena’im: Literally meaning the ‘conditions,’ the tena’im is a document that signifies two families approving a match between their children. The document can include instructions for finances, the time and date of the wedding, and the penalties each family will face if either person decides to back out. It is also customary for attendees to smash a plate to commemorate the families’ approval of the union. The tena’im is a tradition that has evolved over time and has modern reinterpretations. 
  • Aufruf: On a Shabbat service before the wedding ceremony, the couple is called up to the bimah, a synagogue’s elevated platform, and is given the honor of an aliyah, the recitation of the blessing before and after the Torah reading. Once the couple has finished reciting the blessing, it is customary for congregants to pelt throw fruit gummies at the couple to wish them a sweet and happy marriage. 
  • Find a Wedding Officiant: A wedding officiant is a wonderful resource that can help the couple incorporate Jewish traditions to make the wedding a meaningful Jewish event. Whether you opt to have Jewish clergy, or a close friend officiate the wedding, the earlier you communicate what ceremonial traditions are important to you the better. Clergy members may also provide pre-marriage counseling which can help the couple visualize and prepare for their future together.

  • Genetic Screening: During your pre-marital counseling sessions, your wedding officiant may recommend getting carrier screening during your engagement. At least one in four individuals of Ashkenazi Jewish descent is a carrier for at least one “Jewish” genetic condition. However, it is important to note that while individuals with Jewish ancestry are more likely to carry some of these conditions, anyone, regardless of ethnicity, can be a carrier of any condition. Therefore, it is important for Jewish and interfaith couples to know their carrier status when planning for a family.

The Sarnoff Center wishes you mazel tov on your engagement! Whether or not you choose to incorporate some of these customs during your engagement, remember to focus on what is most important – your relationship to each other.

To learn more about the Sarnoff Center’s affordable, accessible carrier screening program or to speak with a genetic counselor, visit JewishGenetics.org/cjg/get-screened or contact us at GeneticScreening@juf.org.

Meet Kate, the Sarnoff Center's Adminstrative Aide

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I am thrilled to join the Norton & Elaine Sarnoff Center for Jewish Genetics as an administrative aide. I grew up in the small town of Mercersburg, PA until I moved to Richmond, VA to attend the University of Richmond. I majored in art history with a focus in museum studies. I worked at the Virginia Museum of Fine Arts in advancement and development, and then moved to Chicago this past fall. I’m excited to use my experience to help serve Chicago’s Jewish community. In addition to my work with the Sarnoff Center, I will work with JUF’s Community Outreach and Engagement team. I’ve enjoyed all the great art, food, and coffee Chicago has to offer, and look forward to my first summer in the city.


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.


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 .