Mission & Impact


The Orphan Disease Center will develop transformative therapies using platform technologies that can be deployed across multiple rare diseases. We will emphasize disorders with substantial unmet need independent of their incidence and will strive to assure access to patients of all populations.


Each type of orphan disease affects such a small subset of the population, so the need for research and funding in this area is largely unmet. Our Center, the first of its kind, works closely with patient groups and foundations, pharma and biotech, and the academic community. We bring a unique set of programs to the table, enabling us to add value at any stage - from building the initial knowledge base to enabling therapeutic development. Through our grants, Programs of Excellence, International Patient Registries, Jump Start programs, and a number of new initiatives, the ODC seeks to drive therapeutic development for rare diseases. We help identify and fund the most promising therapeutics while also tackling obstacles present in rare disease drug development.


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

•    Uniting investigators and clinicians within Penn, Chop, and internationally who are committed to treating and curing orphan disorders/diseases.

•    Creating resources for the rare disease community to enable discovery and preclinical development of potential therapies, as well as the clinical translation of those efforts.

•    Extending successful approaches developed in one disorder to multiple others, and developing new technologically 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.