Keystone Symposia

This meeting took place in 2018

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From Rare to Care: Discovery, Modeling and Translation of Rare Diseases (S4)

Organizer(s) Josef M. Penninger and Kym Boycott
November 11—14, 2018
Vienna BioCenter, IMP Lecture Hall • Vienna, Austria
Discounted Abstract Deadline: Jul 25, 2018
Abstract Deadline: Aug 13, 2018
Scholarship Deadline: Jul 25, 2018
Discounted Registration Deadline: Sep 18, 2018

Developed in collaboration with Vienna BioCenter Research Institutes GMI, IMBA,

Sponsored by Bioverativ Therapeutics, Moderna, Novo Nordisk A/S, Sanofi US, Sarepta Therapeutics and Valerion Therapeutics

Summary of Meeting:
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 conference 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.

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Keystone Symposia Future of Science Fund Scholarship Recipients

Marie Morimoto
National Institutes of Health, USA

National Center for Advancing Translational Sciences (NCATS) Scholarship Recipients

Simone Haag
École Polytechnique Fédérale de Lausanne, Switzerland

Fabian Kaiser
Erasmus MC, Netherlands

Chrissie Lim
Institute of Molecular and Cell Biology, Singapore

Ramona Miserendino
University of Modena and Reggio Emilia, Italy

Eriene-Heidi Sidhom
Harvard Medical School, USA