What is an Orphan Disease?

An orphan disease is a disease which affects a relatively small number of individuals and for which no drug therapy has been developed because the small market would make the research and the drug unprofitable.

Diseases are classified as orphan when they affect fewer than 200,000 people. However, as there are approximately 7,000 diseases now identified in this population, more than 25 million Americans are currently afflicted. Many of these diseases are caused by genetic mutations and are diagnosed in children. These diseases often appear before the age of two, and they can be debilitating and life-threatening, often times resulting in early death. An inadequate understanding of their underlying causes is one of the greatest obstacles standing in the way of new treatments and cures for orphan diseases.

Paving the Path to Cures

The Orphan Disease Pathway Project is a non-profit organization dedicated to finding cures and effective treatments for orphan, or rare diseases, and to facilitate research of such ailments. Providing financial assistance to organizations, hospitals, universities, research centers and doctors that are researching treatments for orphan diseases, is only part of what the Orphan Disease Pathway Project offers. The foundation also grants financial assistance to organizations that provide services to individuals and families who are affected by orphan diseases.

Working Together

One of the largest endeavors of the Orphan Disease Pathway Project is the formation of the new Penn Center for Orphan Disease Research and Therapy, catalyzed by a $10 million gift from an anonymous donor, whose vision matched that of Penn Medicine in developing treatments for these diseases. The Center will fill a crucial need by providing the core laboratories, techniques, collaborative relationships, and expertise to lead an international, coordinated effort in the eradication of orphan diseases. Key among these resources is a state-of-the-art, robotically controlled drug screening laboratory that enables researchers from around the world to probe rapidly existing compound libraries for effective, orphan disease treatments.