Congenital Muscular Dystrophies: optimising care and preparing for clinical trials
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00:03:48 Congenital Muscular Dystrophies: optimising care and preparing for clinical trials,
Dr. A. Reghan Foley, MD, MD(Res). A. Reghan Foley, MD, MD(Res) Senior Research Physician Neuromuscular and Neurogenetic Disorders of Childhood Section NINDS, National Institutes of Health
Dr. A. Reghan Foley is a Senior Research Physician within the Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA. She received her M.D. from Georgetown University School of Medicine and completed her pediatrics training at Miami Children’s Hospital and fellowship training in pediatric neurology, adult neurology and neuromuscular disorders at the Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania. Dr. Foley then completed a neuromuscular clinical research fellowship at the Dubowitz Neuromuscular Centre, UCL Institute of Child Health and the Great Ormond Street Hospital, London and an MD Research degree [MD(Res)] at the University College London. She then worked as a Neurology Consultant at the Children’s University Hospital, Temple Street, Dublin and at the Central Remedial Clinic, Dublin. Dr. Foley is now based at the National Institutes of Health, Bethesda (USA), where she sees genetically undiagnosed patients with congenital onset neuromuscular conditions and follows children with congenital myopathies and congenital muscular dystrophies via various natural history studies. She has served as an investigator for Phase 1 clinical trials in the COL6-related dystrophies, LAMA2-related dystrophies, MTM1-related myopathy, and giant axonal neuropathy. During 2024, Dr. Foley received a Fulbright Scholar award which enabled her to work onsite at the University College Cork at UCC’s INFANT Centre and the Department of Anatomy and Neuroscience on research aimed at identifying and validating disease-specific biomarkers in patients with COL6-related dystrophies and LAMA2-related dystrophies.