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Orphan disease Penn

Welcome to the Center for Orphan Disease Research & Therapy at the University of Pennsylvania

H. Lee Sweeney, Ph.D., William Maul Measey Professor of Physiology
Director, Center for Orphan Disease Research and Therapy

Orphan diseases represent a collection of disorders that afflict fewer than 200, 000 individuals for any single disease type, yet there are more than 7, 000 distinct orphan diseases.

In the aggregate, over 25 million people in the United States suffer substantial morbidity and mortality from orphan diseases. Despite this huge number, research in most disease types has lagged far behind other major areas due to a combination of technological and funding limitations.

The mission of the Penn Center for Orphan Disease Research and Therapy is to facilitate and expedite the development of novel therapies for orphan disorders/diseases. The Center will achieve this mission through innovation of therapeutic strategies and translation of these into the clinic, building on partnerships among investigators, academic institutions, industry, and funding agencies.

The focus of the Center lies in partnership and leveraging of resources:

  • Uniting investigators and clinicians within Penn and multiple institutions who are committed to treating and curing orphan disorders/diseases.
  • Creating resources at Penn to enable discovery and preclinical development of potential therapies, as well as the clinical translation of those efforts.
  • Extending approaches developed in one disorder to multiple others, and developing new technogically advanced research services to support this research.
  • Providing a facile means for both small biotech and large pharmaceutical companies to partner with academic researchers in orphan disease research and therapeutic development.
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