Orphan Disease Center

About Us

The Center is led by H. Lee Sweeney, Ph.D., William Maul Measey Professor of the Department of Physiology. Dr. Sweeney is an expert on the muscular dystrophies and is actively involved in developing therapies for neuromuscular diseases. He has directed the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at Penn since 2005. For his research, he received a Hamdan Award for Medical Research Excellence from Sheikh Hamdan of Dubai. He also serves as the Scientific Director of the Parent Project Muscular Dystrophy, an advocacy group whose mission is to end Duchenne muscular dystrophy.

The author of approximately 200 papers and reviews that have more than 20,000 cumulative citations, Dr. Sweeney is a Fellow of the American Heart Association and a recipient of the Perelman School's Stanley N. Cohen Biomedical Research Award. He 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 Française contre les Myopathies and of the NIH's Skeletal Muscle and Exercise Physiology Study Section.

In addition to the leadership of Dr. Sweeney, the Center is steered in its mission by its Internal Advisory Committee. The Committee, chaired by Dr. Sweeney, includes Penn faculty who are leaders in their fields, including the study of rare diseases.

H. Lee Sweeney, Ph.D., William Maul Measey Professor of Physiology

H. Lee Sweeney, PhDDr Sweeney has basic research interests that focus on molecular motors, as well as a translational research program focused on developing therapies for rare neuromuscular diseases, especially the muscular dystrophies. Dr. Sweeney earned both a master's degree in physiology and a doctorate in physiology and biophysics from Harvard University. He joined Penn's medical faculty as an assistant professor in 1989, advancing to professor in 1998. Dr. Sweeney has secondary appointments in Medicine (Division of Cardiology), in Pediatrics (Children's Hospital of Philadelphia), and in Neurology (Children's Hospital of Philadelphia).

Dr. Sweeney has published nearly 200 papers and reviews, with more than 20,000 cumulative citations. Dr. Sweeney's basic research interests are focused on molecular motors of the myosin superfamily. Notable among his accomplishments on molecular motors was the first visualization of structural rearrangement of the myosin lever arm, a detailed analysis of how processive myosins are engineered, a demonstration of the structural changes induced by actin-binding and nucleotide release, and the discovery and molecular dissection of the only known reverse-direction myosin.

Much of Dr. Sweeney’s research program is translational in focus, and has produced highly cited research on inherited forms cardiovascular disease, and on the skeletal and cardiac aspects of Duchenne muscular dystrophy. Dr. Sweeney was elected as a Fellow of the American Heart Association in 2001. He has been Director of a Paul Wellstone Muscular Dystrophy Cooperative Center since 2005. Dr. Sweeney is actively developing therapeutics for rare diseases that include both small molecule and gene therapy approaches. For his work on muscular dystrophy, Dr. Sweeney was awarded a Hamdan Award for Medical Research Excellence from Sheikh Hamdan of Dubai in 2008.

Dr. Sweeney is well known in the popular press for his gene-therapy approaches to permanently block the loss of age-related muscle size and strength in mice. The technique suggests that therapies for humans could reverse the feebleness associated with old age or slow the muscle-wasting effects of muscular dystrophies. Based on the enhancement this creates in healthy young animals, Dr. Sweeney has been widely sought as an expert commentator on the potential for gene "doping" in sports, as well as on the bioethical issues surrounding genetic enhancement. In 2004, this work led to Dr. Sweeney being among those chosen by Esquire Magazine as the “Best and Brightest” in America.

Dr. Sweeney currently is a past member of the NIAMS (NIH) Advisory Council and serves on the Gene Doping Advisory Committee for the World Anti-Doping Agency (WADA). He also currently serves as Scientific Director of the Parent Project Muscular Dystrophy (PPMD). His work has been featured in articles in a number of magazines and newspapers, including Time, the Wall Street Journal, USA Today, the London, NY and LA Times, and most recently, the New Yorker.

Video: End Duchenne: Time is Ticking