Penn Scientist Named First Director of New Center for Orphan Disease Research and Therapy

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Media Contact:Karen Kreeger | Karen.kreeger@uphs.upenn.edu | 215-349-5658November 29, 2012

PHILADELPHIA — H. Lee Sweeney, Ph.D., the William Maul Measey Professor at the Perelman School of Medicine, University of Pennsylvania, has been named the inaugural director of Penn’s Center for Orphan Disease Research and Therapy. The primary mission of the Center is to expedite the translational science and development of novel therapies for rare and orphan diseases. The Center will achieve this by promoting innovative translational research and therapeutic strategies, building on partnerships among investigators, academic institutions, patients and advocacy groups, industry and funding agencies.

Formation of the new Center was catalyzed by a $10 million gift from an anonymous donor in July 2011. The Center fills 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.

Diseases are classified as orphan, or rare, 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. Research in many orphan diseases has lagged behind other major disease categories, such as diabetes and cardiovascular disease, in part because of a relative lack of technical expertise and funding mechanisms. Penn's Center will specifically address these needs.

“I am pleased to name Dr. Sweeney as the first director of the Center for Orphan Disease Research and Therapy,” says J. Larry Jameson, M.D., Ph.D., Executive Vice President for the Health System and Dean of the Perelman School of Medicine. “The Center is a natural extension of Penn's expertise in the pathogenesis and treatment of rare diseases.  With his decades of experience in basic biomedical research, work with families, and involvement with biotech firms and the federal government, Dr. Sweeney is an especially appropriate choice to lead the Center.”

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