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Alan Beggs, PhD

The Manton Center
Boston Children's Hospital
3 Blackfan Circle
CLS 12260
Boston, Massachusetts, United States

Alan H. Beggs is 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 University, with subsequent postdoctoral fellowship training in medical and molecular genetics at Johns Hopkins and Boston Children’s hospitals. He has general expertise in laboratory and clinical applications of genetics to human disease, and since 1992 has directed an independent research program in the Division of Genetics and Genomics.

Over the years, he has used the toolset of human molecular genetics to study normal biology and pathophysiology of a variety of disorders including muscular dystrophies, cardiac arrhythmias, developmental brainstem defects, hereditary anemias, sudden infant death syndrome, and congenital myopathies. Dr. Beggs has been a standing and ad-hoc member of numerous NIH study sections and grant reviewer for the Muscular Dystrophy Association and March of Dimes. He is a member of several scientific advisory boards and boards of directors for nonprofit and commercial entities.


Representative Publications:

The Molecular Basis for Duchenne Versus Becker Muscular Dystrophy: Correlation of Severity With Type of Deletion

Differential Glucocorticoid Effects on the Fusion of Duchenne/Becker and Control Muscle Cultures: Pharmacologic Detection of Accelerated Aging in Dystrophic Muscle

The Concomitant Use of Dystrophin and Utrophin/Dystrophin Related Protein Antibodies to Reduce Misdiagnosis of Duchenne/Becker Muscular Dystrophy 

Gene Expression Comparison of Biopsies From Duchenne Muscular Dystrophy (DMD) and Normal Skeletal Muscle

Cross-Reactive Protein in Duchenne Muscle