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Rare Diseases Working Group

Co-Chairs: Yaffa Rubinstein and Kerry Goetz

Orphan or rare diseases are a clinically heterogeneous group of over 7,000 disorders which are commonly diagnosed during childhood and often have deleterious long term effects. Their cumulative public concern around the world is substantial and depending on whose definition you apply, the incidence will range around 1-8/ 10,000. Unfortunately, only around 300 of these disorders have an effective drug therapy. In order to expand our scientific knowledge of these disorders, several biorepository issues need to be addressed.

Issues:
  • Rare disease specimens, to the extent that they are available, are widely dispersed across geographical regions and among various government or privately supported biorepositories.
  • There is a lack of common ethical and legal regulations (informed consent, ownership, and patient privacy) which interferes with global sharing.
  • There is a need to standardize the protocols for the collection of specimens and data for future research.
  • Many advocacy groups lack the funds to support biorepositories and/or scientific projects and are at the mercy of commercial interests.

Goals

  1. Establish standards and new initiatives to serve as a guide for translational research in rare disorders.
  2. Contribute position papers and journal publications addressing specific challenges, strategies, and opportunities.

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