This meeting took place in 2017



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Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy (C2)


Organizer(s) William A. Gahl and Christoph Klein
March 5—8, 2017
Fairmont Copley Plaza • Boston, Massachusetts USA
Discounted Abstract Deadline: Nov 2, 2016
Abstract Deadline: Dec 6, 2016
Scholarship Deadline: Nov 2, 2016
Discounted Registration Deadline: Jan 10, 2017

Sponsored by Moderna Therapeutics and Vertex Pharmaceuticals Incorporated

Summary of Meeting:
Of the 7000 known rare diseases, only a fraction have their molecular and mechanistic bases delineated, and many other diseases have yet to be discovered. Characterization of these disorders will reveal new biochemical pathways and cell biological processes, point to potential drug targets, and provide hope for millions of affected individuals. This meeting will address approaches and best practices in pursuing rare and undiagnosed disorders, limitations in data sharing as a barrier to new disease discovery, and examples of successful descriptions of new diseases, mechanisms, and treatments. Specific aims include fostering the development of expertise in rare diseases and the definition of their natural histories; an international network of scientists and physicians collaborating on new disease discovery by sharing phenotypic and sequence data; and new therapeutic approaches based upon rare and new disease mechanisms. Through this meeting, participants should become familiar with rare and undiagnosed disease programs, acquire insights into new disease mechanisms, learn about potential therapeutic targets, and establish collaborations that enhance rare disorder expertise and new disease discovery. The meeting will bring together physicians who are expert in rare disorders with scientists who know metabolic pathways and mechanisms, advancing understanding and therapy. A desired outcome of the meeting includes developing lists of clinical and basic research experts for synergistic collaborations, and creating an international organization to perpetuate the joint investigation of rare and new diseases.

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Scholarships/Awards

Keystone Symposia Future of Science Fund Scholarship Recipients

Dong Li
Children's Hospital of Philadelphia, USA

Srinivasan Sakthivel
University of Copenhagen, Denmark