Diana X. Bharucha-Goebel, MD

Diana X. Bharucha-Goebel, MD, is a pediatric neurologist and medical director of the Gene Therapy Center of Excellence at Nationwide Children’s, as well as principal investigator in the Jerry R. Mendell Center for Gene Therapy in the Abigail Wexner Research Institute. She is also associate professor of Pediatrics in The Ohio State University College of Medicine.

Dr. Bharucha-Goebel’s research focuses on early-onset neuromuscular diseases and the evaluation and identification of disease-focused outcome measures in rare diseases related to clinical trial readiness. She co-developed and implemented the first-in-human AAV-mediated gene transfer study for giant axonal neuropathy and completed a parallel natural history study to assess outcome measures in this rare condition. Dr. Bharucha-Goebel’s work aims to evaluate the complex interplay between optimizing transduction efficiency and minimizing potentially deleterious immune responses associated with gene replacement therapies. Her work has focused on the assessment of route of administration, immune modulation regimens and assessment of safety as impacted by viral mediated gene transfer targeting the peripheral nervous system.

Dr. Bharucha-Goebel contributes to national collaborations exploring how emerging disease-modifying therapies influence the progression and clinical presentation of neuromuscular disorders. As these therapies evolve rapidly, she plays a key role both locally and nationally in assessing their impact on patient care and the changing needs of individuals affected by these conditions. She has co-authored more than 50 publications in high-impact journals and book chapters to date and has presented her work at over 60 conferences in regional, national and international settings. Dr. Bharucha-Goebel is actively involved in several professional organizations, including the American Society for Gene and Cell Therapy, Charcot-Marie-Tooth Association - CMTA-STAR Advisory Board, Muscular Dystrophy Association Medical Advisory Board, and the Cure SMA Medical Advisory Council.