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How to Lend a Hand This Rare Disease Day

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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


1. Global Genes

2. National Gaucher Foundation

3. EveryLife Foundation for Rare Diseases

4. Global Genes




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