Charlotte J Sumner

Charlotte J Sumner

Dr. Charlotte J. Sumner is an Associate Professor of Neurology and Neuroscience at Johns Hopkins University School of Medicine. She received her B.A. from Princeton University and her M.D. from the University of Pennsylvania School of Medicine. She completed internal medicine internship and neurology residency at the University of California San Francisco and neuromuscular fellowship at Johns Hopkins University School of Medicine. Her scientific training included Neurogenetics fellowship at the National Institute of Neurological Disorders and Stroke. Dr. Sumner cares for patients with inherited diseases of motor neurons and peripheral nerves such as spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease and co-directs the Johns Hopkins CMT clinic. Dr. Sumner’s research focuses on the genetic and cellular pathogenesis of SMAs with particular attention to therapeutics development for these disorders utilizing cell and mouse models and human tissues. This work has included identification of novel genetic causes of these disorders, characterization of molecular and cellular mechanisms underlying disease pathogenesis, and preclinical development of therapeutics now advancing to clinical trials in SMA patients. Dr. Sumner’s laboratory research has been funded by the National Institute of Neurological Disorders and Stroke, Muscular Dystrophy Association, Cure SMA, the Spinal Muscular Atrophy Foundation, Spinal Muscular Atrophy Research Team, Ujala Foundation, and the Howard Hughes Medical Institute. She is an Associate Editor of the journal Experimental Neurology and advisor to several companies developing treatments for SMA as well as nonprofit foundations including the Packard Center for ALS research, ALS Association, Cure SMA, and the SMA Foundation.

Affiliations and Expertise

Neurology and Neuroscience, Johns Hopkins University School of Medicine, USA