Orphan Disease Center

  • Meet Conor, Diagnosis: Maple Syrup Urine Disease

    Conor was born a hefty nine pounds. “Chubby and bright eyed," Parents Julia and Daryl "had no clue that there was any issue until we got his newborn screening results back. We drove him to the hospital right away,” Shortly after, Conor stopped breathing. Luckily the doctors were able to get Conor breathing again, with no damage to his brain.  The EEG showed healthy brain development in general, and they were told that they could continue to keep Conor’s brain healthy if they strictly monitored his protein intake. “It’s really hard for me to be okay with the fact that I cannot get this perfect,” Julia reflects.  “I want to get his food exactly right for him, the levels he needs one-hundred percent exact, but I can’t. I can’t protect him from everything. That has been really hard for me to surrender to.”

  • Orphan Disease Center, photo by Positive Exposure

    Meet Crosby, Diagnosis: Congenital Hyperinsulinism

    This is Crosby and he has congenital hyperinsulinism.  When he was born, his blood sugar dropped dangerously low and he was at constant risk of brain damage.  When he was one week old, 98% of his pancreas had to be removed because he made too much insulin. He still makes too much insulin and depends on daily injections of octreotide and a continuous infusion dextrose drip through a feeding tube to keep him alive and his brain safe (Learn more at congenitalhi.org.) "The ODC is a rare place of hope for the rare disease community.  It funds projects to support research that will lead to better treatments and possibly a cure for Crosby's condition, as well as many other rare diseases." — Julie Raskin, Executive Director, Congenital Hyperinsulinism International
    Photo by Positive Exposure

  • 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

  • Meet Millie, Diagnosis: Glut1 DS

    Millie was born a happy healthy baby, and at 4 months of age began with episodes of uncontrolled abnormal eye movements.  Then her symptoms progressed to include developmental delays, ataxia, speech and language delays, and weakness.  We began to notice a correlation of improved movement and speech after consuming sugary snacks or drinks. At 3 ½ years of age, she was diagnosed with Glut1 DS. (Learn more at http://www.g1dfoundation.org) Shortly after diagnosis, Millie was admitted and started on the ketogenic diet, and has shown steady progress in all areas of development.  While we are blessed and amazed with Millie’s progress, the ODC raises our hope that someday Millie and all those with Glut1 DS, may have a more effective treatment or even a cure. 

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 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.

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 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.


Interested in learning more about the Orphan Disease Center? Join our mailing list here.