Orphan Disease Center

About Us

The Orphan Disease Center was formed in 2011 with a generous gift from philanthropist and Wharton graduate, George A. Weiss. The Center, which is the first of its kind, was created to facilitate translational research and therapy development to address the prevalence of certain orphan diseases that affect a marginalized population of individuals internationally. H. Lee Sweeney, PhD, William Maul Measey Professor of the Department of Physiology, served as the first Director of the Orphan Disease Center from 2012-2014. Dr. Sweeney is an expert on the muscular dystrophies and is actively involved in developing therapies for neuromuscular diseases. Since January 2015, James M. Wilson, MD, PhD, Professor of Pathology and Laboratory Medicine, serves as the current Director of the Center.

Because each type of orphan disease affects such a small subset of the population, the need for research on and funding for such rare genetic mutations is grossly unmet. The goal of the Orphan Disease Center is to address these growing needs through continued collaboration and partnership, identifying and providing funding sources, and by providing technological and educational resources to academic researchers, biotech and pharmaceutical companies alike, to foster therapeutic development and innovative research initiatives.

James M. Wilson, MD, PhD
Director, Orphan Disease Center

James M. Wilson, M.D., Ph.D. Dr. Wilson is a Professor of Pathology and Laboratory Medicine in the Perelman School of Medicine where he has led an effort to develop the field of gene therapy. Dr. Wilson began his work in gene therapy during his graduate studies at the University of Michigan over 30 years ago. He then moved to Boston to do a residency in Internal Medicine at the Massachusetts General Hospital and continued his work in gene therapy at MIT. Dr. Wilson has been at the nexus of this emerging therapeutic area from its birth. He created the first and largest academic-based program in gene therapy after being recruited to Penn in 1993. He initially focused on clinical translation of existing gene transfer technologies but soon redirected his efforts to the development of second and third generation gene transfer platforms, the first of which was licensed to a biotechnology company he started that resulted in the first, and, at this point only, commercially approved gene therapy in the western hemisphere.


More recently, his laboratory discovered a family of viruses from primates that could be engineered to be very effective gene transfer vehicles. These so called "vectors" have become the technology platform of choice and have set the stage for the recent resurgence of the field of gene therapy. Dr. Wilson has also been active in facilitating the commercial development of these new gene therapy platforms through the establishment of several biotechnology companies. He is leading a national dialogue on the challenges of commercializing these potentially lifesaving treatments due to the disruptive nature they will have on traditional business models. Throughout his career, the focus of Dr. Wilson’s research has been rare inherited diseases, ranging from cystic fibrosis to dyslipidemias to a variety of metabolic disorders.


Dr. Wilson has published over 550 papers, reviews, commentaries and editorials in the peer-reviewed literature and is an inventor on over 117 patents. He was the second President of the American Society of Gene Therapy. In 2014, Dr. Wilson received both the Jane M. Glick Graduate Student Teaching Award and the William Osler Patient Oriented Research Award from the Perelman School of Medicine of the University of Pennsylvania. Dr. Wilson was recently noted by the journal Nature Biotechnology to be the “second most productive bio-entrepreneur in life sciences.” Dr. Wilson is a Trustee at Albion College and founder of a 501(c)3 called Health Through Fitness in Orphan Diseases. He is also the Director of a bicycle team called Rare Disease Cycling, whose participants compete at a national level and help raise money for rare disease research.