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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.

Goals

  1. Identify researchers using rare samples to facilitate collaboration and lessons learned
  2. Promote the use of rare disease biobanks. Share successful use cases.
  3. Communicate and coordinate with different organizations and conference organizers to include rare disease issues on their agenda (to include presentations, discussion panels posters and publication).
  4. Identified rare disease patient registries that maintain sample collection/biobank.
  5. Disseminate news, events, knowledge, publications pertaining to rare diseases.
  6. Foster patient engagement in specimen donation, and the consent process.
  7. Improve access to donated specimens from patients seen at different sites/hospitals (successful use cases).

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. 

To join the ISBER Rare Diseases Working Group (RD-WG), please use the following link and provide the requested information.
Form for a Request to Join the ISBER RD-WG.

WORKING GROUP MEMBERS 

To connect and engage in Working Group activities, click here to navigate to your Working Group Forum.

 

 

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