Diana Bharucha-Goebel, MD

Diana Bharucha-Goebel, M.D. is Director of the Neuromuscular Program and Associate Professor in the Division of Neurology at Children’s National Hospital, and Clinical Research Collaborator at the National Institutes of Health (NINDS/ NNDCS). Her work centers on early onset neuromuscular diseases, with a focus on the evaluation and identification of disease-focused outcome measures in rare disease as related to clinical trial readiness. She co-developed and implemented the phase I first-in-human AAV mediated gene transfer study for giant axonal neuropathy, and additionally performed a parallel natural history study to assess outcome measures in this rare disorder. Her work focuses on evaluating factors with gene transfer such as: assessment of route of administration, immune modulation regimens, immune monitoring, and assessment of safety as impacted by viral mediated gene transfer targeting the peripheral nervous system. Dr. Bharucha-Goebel collaborates nationally to study the impact of novel disease modifying therapeutic approaches on evolving phenotypes and new clinical needs for individuals with neuromuscular disease. With the rapid advancement of disease modifying therapies, Dr. Bharucha-Goebel is actively involved within her institution and nationally in the evaluation of understanding the impact of therapeutic approaches in the care needs and evolving phenotype for individuals with neuromuscular disease with a changing therapeutic landscape and novel therapeutic strategies.
Financial relationships
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Type of financial relationship:There are no financial relationships to disclose.Date added:05/20/2025Date updated:05/20/2025