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 Penns 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.

I feel that I have been preparing for this position for the past 15 years in my work with the neuromuscular disease community, says Sweeney. I look forward to expanding my experiences to a broader range of orphan diseases.

For much of his career, Sweeney, chair of the Department of Physiology until June 2013, a position he has held since 1999, has studied the mechanisms that help control muscle function with the hope of gaining a better understanding of ways to thwart muscle deterioration caused by age and degenerative diseases and to promote muscle growth. Sweeney has also directed the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at Penn since 2005.

Sweeneys research includes the study of animal models of Duchenne muscular dystrophy, a rapid muscle degenerative disease that can lead to muscle weakness, including the heart and diaphragm, ultimately limiting life expectancy. His research team at Penn studies both small molecule and gene therapy approaches to help treat genetic diseases and to validate possible therapeutic targets. He led a team of researchers who showed that a new drug called PTC124 could override a genetic mutation causing muscle degeneration in DMD mice without causing apparent side effects. PTC124, developed by PTC Therapeutics, a small biotech firm in NJ, in collaboration with Sweeneys lab, is currently in clinical trials with DMD and cystic fibrosis patients. For this body of work, Sweeney received a Hamdan Award for Medical Research Excellence from Sheikh Hamdan of Dubai in 2008.

He also serves as the Scientific Director of the Parent Project Muscular Dystrophy, an advocacy group whose mission is to end Duchenne muscular dystrophy and is actively involved in lobbying Congress for funding in the area of neuromuscular diseases.

The author of more than 180 papers and reviews that have more than 16,000 cumulative citations, Sweeney is a Fellow of the American Heart Association and a recipient of the Perelman Schools Stanley N. Cohen Biomedical Research Award. Sweeney has served on the advisory council of the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Currently, he is a member of the Committee on Neuromuscular Disease of the Association Franaise contre les Myopathies and of NIHs Skeletal Muscle and Exercise Physiology Study Section.

Sweeney is an alumnus of the Massachusetts Institute of Technology (S. B., Biology / Biochemistry). He earned both his A.M. degree in physiology and his doctorate in physiology and biophysics from Harvard University. After a year as a research instructor in physiology at the University of Texas Southwestern Medical School, he spent four years as assistant professor at the University of Texas at Austin. Dr. Sweeney joined the University of Pennsylvania in 1989 as assistant professor of Physiology. In 1998, he became professor of Physiology, with secondary appointments in Medicine (Division of Cardiology) and Surgery; in 2005, he added a secondary appointment in Pediatrics.

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

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