Alan H. Beggs, PhD

Alan H. Beggs PhD. joins Cure Rare Disease as our Scientific Director and is excited about the mission of developing customized therapeutics. Alan is also the Director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital and Sir Edwin & Lady Manton Professor of Pediatrics at Harvard Medical School. Following undergraduate studies at Cornell University, Dr. Beggs obtained his PhD in Human Genetics at Johns Hopkins, with subsequent postdoctoral fellowship training in medical and molecular genetics at Johns Hopkins and Boston Children’s hospitals. Throughout his career, he has used the toolset of human molecular genetics to study normal biology and disease processes in a variety of diseases with a particular focus on congenital myopathies, muscular dystrophies, and related neuromuscular diseases. In this role, and as founding director of The Manton Center, he has led the discovery of numerous new disease genes and has pioneered the development of gene therapy for one such condition, myotubular myopathy. The Manton Center provides resources and a training environment to support research on understudied “orphan diseases” through support of junior faculty with multiyear career development awards, pilot project grants, and access to the Center’s Gene Discovery Core (GDC), which provides genetic and genomic analysis services, and a rich collaborative environment for interactions between clinicians, researchers and bioinformaticians. Dr. Beggs has been a standing and ad hoc member of numerous National Institutes of Health grant committees and reviewer for the Muscular Dystrophy Association, March of Dimes and other national and international medical research foundations. He is a member of multiple scientific advisory boards, and boards of directors for both nonprofit and commercial entities.