Orphan Disease Center

Areas of Rare Disease Focus

Based on the existing strengths within the Penn and CHOP communities, we have identified five initial areas of rare disease focus for the Center and five individuals to advise and help coordinate research and development in these areas. We anticipate that more focus areas will be added as the Center evolves.

Five Initial Areas of Rare Disease Focus:

  • Neuromuscular Disease – H. Lee Sweeney, Ph.D.
  • Metabolic Disorders – James M. Wilson, M.D., Ph.D.
  • Ocular Disorders – Jean Bennett, M.D., Ph.D.
  • Hematological Disorders – Katherine A. High, M.D.
  • Rare Cardiovascular Diseases – Daniel J. Rader, M.D.

Center-Sponsored Research Projects on Rare Diseases for Members

To date, the Center has awarded over $4.4 million dollars to researchers on rare diseases. So far these grants have focused on lysosomal storage diseases, but in the future we plan to broaden the research awards to other rare disease areas as resources permit. These awards have not been limited to the Penn/CHOP community, as the Center strives to support rare disease efforts nationally and internationally. We plan to continue funding rare disease projects and expand to other rare diseases.

To gain access to funding opportunities, please view our Grants and Pilot Projects. These funding opportunities and other resources are only are available to members of the Center. Please view the Membership page to join our Center.

Animal Testing Cores

Preclinical testing cores, that will maintain animal models of rare diseases, are being developed to support the disease focus areas of the Center. As Center supported Cores are developed, information on the services they provide and how to get access will be posted on this site.