Alan H. Beggs, PhD

Pathophysiology of rare genetic conditions.

Alan H. Beggs PhD. 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. Dr. Beggs is also the Core Director for the Molecular Genetics Core at the Intellectual and Developmental Disabilities Research Center (IDDRC) at Boston Children’s Hospital and a member of the Undiagnosed Disease Network (UDN), Boston site.

A major focus over the years has been on gene discovery and improving methods for identification of pathogenic mutations, with return of these research results to patients in a clinical setting. Current research in the Beggs laboratory utilizes genomic approaches in human patients and animal models to understand the pathophysiology of rare genetic conditions, and to develop animal models for use in creating targeted therapies to treat these devastating childhood disorders.

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