Dr. Charlotte Sumner is a Professor of Neurology and Neuroscience at Johns Hopkins University School of Medicine. Dr. Sumner cares for patients with genetically-mediated neuromuscular diseases. Her practice is notable for a focus on individuals with inherited neuromuscular disorders of peripheral nerves and motor neurons, including Spinal Muscular Atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease. She Co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) Clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics.

Dr. Sumner’s research focuses on developing treatments for degenerative disorders of motor neurons and peripheral nerves. Her laboratory uses human tissues and induced pluripotent cell lines, mouse models and cultured cells to characterize disease mechanisms and develop treatments.

Dr. Charlotte Sumner received her medical degree from the University of Pennsylvania School of Medicine following undergraduate studies at Princeton University. She completed internal medicine internship and neurology residency at the University of California San Francisco, after which she returned to the east coast for a Neuromuscular Fellowship at Johns Hopkins and a Neurogenetics Fellowship in the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke.

Representative Publications:

Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned From Spinal Muscular Atrophy

Neurofilament as a Potential Biomarker for Spinal Muscular Atrophy

Two Breakthrough Gene-Targeted Treatments for Spinal Muscular Atrophy: Challenges Remain

The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy

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