|Rare Diseases Working Group|
Co-Chair: Yaffa Rubinstein Co-Chair: Samuel Hughes
Rare diseases are a clinically heterogeneous group of about 7,000 disorders which are mostly genetic in origin. Rare diseases affect mostly children which is commonly diagnosed during childhood and often have deleterious long term effects. Their cumulative public concern around the world is substantial. Unfortunately, only around small portion of these disorders have an effective drug therapy. To expand our scientific knowledge of these disorders, increased efforts is needed to invest on initiatives addressing obstacles in children participation in research, including collection and access to pediatric samples.
We anticipate that all members of the RD-WG will work collectively together to accomplish these goals, and to make significant contribution to ISBER mission.
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