Alan H. Beggs

Curriculum Vitae

Alan Beggs is director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital and the Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School. He received his A.B. degree in biology at Cornell University and his Ph.D. degree in human genetics at Johns Hopkins University. Dr. Beggs has been a standing and ad hoc member of numerous National Institutes of Health study sections and grant reviewer for the Muscular Dystrophy Association, March of Dimes and various international funding agencies. He is a member of the scientific advisory boards for A Foundation Building Strength, the Congenital Muscle Disease International Registry, and several biotechnology companies developing treatments for rare diseases, as well as the Board of Directors of American MedChem, a nonprofit devoted to drug development for rare and neglected diseases of children.  His laboratory has led studies to identify the genetic basis for a wide variety of rare conditions with a particular focus on skeletal muscle and its defects in congenital myopathies and related neuromuscular diseases. Current research is focused on utilizing genetic approaches in human patients and animal models to understand the pathophysiology, as well as develop targeted therapies, to treat these devastating childhood disorders.