From Rare to Care: Discovery, Modeling and Translation of Rare Diseases

Keystone Symposia, Silverthorne CO

Investigators

Linked publications, trials & patents

Abstract

ABSTRACT Support is requested for a Keystone Symposia conference entitled From Rare to Care-Discovery, Modeling and Translation of Rare Diseases, organized by Drs. Josef M. Penninger and Kym Boycott. The conference will be held in Vienna, Austria from November 11-15, 2018. Work over the past 30 years has resulted in the identification of genes for ~50% of the estimated 7,000 rare genetic diseases; it is predicted that most of the remaining disease genes will be identified in the next 10 years. Approximately 500 medicinal products are currently on the market for rare diseases. The accelerating pace of rare disease gene identification means, in effect, an almost commensurate increase in molecularly defined, readily diagnosable, but nonetheless poorly understood and untreatable, diseases. This meeting will examine the current and future bottlenecks to gene discovery, disease modeling, and therapeutic approaches and suggest strategies to enable progress in this regard. Ultimately, successful deployment of precision medicine for rare diseases will inform such approaches more broadly.