Orphan Disease Center

Orphan Disease Center, photo by Positive Exposure

Meet Max, Diagnosis: RASopathy "I only had a glimpse of Max before he was whisked to the NICU with low oxygen. As time passed, his problems mounted. More than a year later he was diagnosed. RASopathies are caused by gene mutations in the Ras-MAPK pathway and include multiple syndromes. Patients share many clinical features and symptoms manifest in almost every body system. Learn more at rasopathiesnet.org. There is little support and funding available for rare diseases. A center like ODC, devoted to develop therapies that improve the quality of life for rare disease patients, is exactly what our community needs." Photo by Positive Exposure

Welcome to the Orphan Disease Center at the University of Pennsylvania

James M. Wilson, M.D., Ph.D., Professor of Pathology and Laboratory Medicine
Director, Orphan Disease Center

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 Orphan Disease Center is to improve the quality of life for those afflicted with rare diseases with a transformative approach to the development of highly effective, innovative therapies. We will emphasize platform technologies that can be deployed with a high probability of success across a range of diseases for which there is substantial unmet need without consideration of disease prevalence. The Center will strive to assure access of these novel therapies to all affected populations.

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. Click here to see profiles of some of our outstanding faculty.
  • 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.
  • Linking academicians to both public and private foundations that support biomedical research for orphan diseases.

 

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