CJG Blog

Center for Jewish Genetics blog

How to Lend a Hand This Rare Disease Day

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NCATS

Rare Disease Day – which occurs every year on the last day of February– is an undoubtedly important time to raise awareness about rare diseases. But it’s also a bit of a misnomer. Rare diseases aren’t quite as "rare" as we think. While each of these unrelated disorders affects a relatively small group of people, collectively 1 in 10 Americans is living with a rare disease.1 

In the Jewish community, many people have been impacted by Gaucher disease, an inherited lysosomal storage disorder. Though rare, Gaucher is nearly 90 times more common among Ashkenazi Jews than in the general population.2 Gaucher disease ranges in severity: some types are milder and treatable, others are severe or even fatal.    

Almost 10 years ago, a team in Israel developed an innovative Gaucher treatment, using plant cells to improve the speed and safety of drug production. The new therapy has benefitted patients around the world and was the first prescription medication to receive kosher certification. While this drug shows incredible promise, we still have a long way to go – for patients living with Gaucher and with other rare diseases. Currently only 5% of all rare diseases have an FDA-approved treatment.3 

Want to take action for those affected by rare diseases? Here are a few ideas to get involved. 

Advocate for rare disease treatments
Many patients living with rare diseases have a long diagnostic odyssey. Then, adding insult to injury, they may receive a diagnosis only to learn there are no available treatments. In attempt to accelerate drug development for rare diseases, congress passed the Orphan Drug Act in 1983 (with mixed success). 

More recently, bipartisan legislation known as the OPEN ACT (standing for Orphan Product Extensions Now – Accelerating Cures and Treatments) was introduced to incentivize biopharmaceutical companies to re-purpose existing therapies to treat rare diseases. It passed in the House in July 2015 but has not been signed into law, despite being reintroduced in 2017. Learn more about the OPEN ACT here

Participate in research
Participating in medical research is another way to help improve diagnostic processes and accelerate treatment options. To learn more about research for rare diseases, visit the Rare Diseases Clinical Network Research Network website. Discuss what you learn about with your physician, who can help you determine whether participating in research is appropriate for you. New research studies are constantly in development, so check in periodically to learn about cutting edge research. For example, families affected by Gaucher disease may be eligible for a study exploring the genetic link between Gaucher and Parkinson’s disease supported the Michael J. Fox Foundation.

Talk to a genetic counselor
About 80% of all rare diseases are caused by genetic changes.4 If you or someone you know is affected by a rare disease, connect with a genetic counselor to learn more about genetics and whether genetic testing is appropriate. As information about the genetics of rare disease advances, we hope to better understand how to help future patients with these diseases. The Sarnoff Center’s genetic counselor can answer questions and provide suggestions for other resources. Or you can locate a genetic counselor in your area through the National Society of Genetic Counselors.


Photo credit: National Center for Advancing Translational Science Flickr

Sources:

1. Global Genes

2. National Gaucher Foundation

3. EveryLife Foundation for Rare Diseases

4. Global Genes

 

 

It Turns Out Carrier Screening is For Me (And You!)

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By Shira Gerstein, Sarnoff Center Associate Board Member

While my classmates were gathered in the assembly room to get their blood drawn for Jewish carrier testing my senior year of high school, I hung out in the hallway. It’s not that I’m squeamish at the sight of blood. Rather, I superciliously (and falsely, I now know) thought that carrier screening was not for me. After all, I’m only half Jewish.

During my senior year of college, I learned from the Center for Jewish Genetics that I could have a 50% chance of being a carrier for a Jewish genetic disease if my father was a carrier and that one in four Ashkenazi Jews were carriers. Since I knew I wanted to marry someone Jewish, I decided to get screened as a precaution. However, as I had smugly anticipated, my test results came back negative. After all, I’m only half Jewish. 

While shadowing genetic counselors after college, I saw numerous occasions where genetic counselors took significance with patients’ distant Jewish ancestry. I wondered why it mattered if a patient is only one-sixteenth Jewish. I’m not a carrier and after all, I’m only half Jewish.

Then one of my siblings did an extensive carrier screening test. As I had arrogantly anticipated, she was not a carrier for a Jewish genetic disease. But to my surprise, she was found to be a carrier of a genetic disease that is found predominantly among the Amish. After researching our family history, we discovered that our grandmother’s grandfather was Amish! Perhaps, carrier screening is for me. After all, I’m one-sixteenth Amish and half Jewish.

The moral of the story? Even having just one Jewish grandparent or great-grandparent is enough to increase a person’s risk of carrying a Jewish genetic disorder.  Furthermore, while Jewish genetic disorders appear more often in individuals of Jewish descent, anyone can be a carrier of these conditions. This also means that someone with predominantly Jewish ancestry can still be a carrier of "non-Jewish" disorders. 

The Norton & Elaine Sarnoff Center offers an affordable, accessible carrier screening program for Jewish and interfaith couples. The online, on-demand model doesn’t even require a blood draw! For more information, visit jewishgenetics.org.
 


Request for Proposals: Sarnoff Center Carrier Screening Program

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The Norton & Elaine Sarnoff Center for Jewish Genetics is pleased to release a Request for Proposals (RFP) for a medical partner for its carrier screening program. 

Background: 
For many years, the Sarnoff Center has facilitated a carrier screening program for Jewish persons and non-Jewish partners of Jewish persons to increase rates of carrier screening for Tay-Sachs, Canavan disease, Gaucher disease, and other genetic disorders. At the time of this RFP’s release, the Center’s panel includes 56 diseases more common among Ashkenazi and Sephardic Jews, and more than 125 additional pan-ethnic conditions.

In addition to this program, the Center has also worked to make genetic health expertise available and accessible to its constituents through educational programming, publications, and one-on-one consultation. These services relate to both the recessive conditions covered under the screening program, and to other relevant genetic health issues such as BRCA-related hereditary cancers.

In 2015, the Center transitioned away from its previous medical partner and entered into a short-term agreement with an independent genetics practice with the intent to release a competitive RFP for a longer-term collaboration with an appropriate organization.

The Sarnoff Center invites qualified organizations to submit a proposal for a three-year collaborative agreement to serve as its medical provider for its carrier screening program. 

Key Dates: 

  • February 28, 2018: Letters of Intent Due by 11:59 p.m.
  • March 1, 2018: Mandatory Bidder’s Conference
  • March 22, 2018: Application Due by 11:59 p.m.

  • How to Apply:
    The Norton & Elaine Sarnoff Center for Jewish Genetics has an online application process. For more information or to view the full RFP, visit: https://juf.fluidreview.com/res/. To begin an application, visit https://juf.fluidreview.com/ and click “Sign Up” to create a FluidReview account using the name of the staff person who will be the contact person for this RFP. 

    Please Direct Inquiries to:
    Sarah Goldberg
    SarahGoldberg@juf.org
    312.357.4994

    Baby1

    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.