Charlotte Jane Sumner, M.D.

Headshot of Charlotte Jane Sumner
  • Professor of Neurology


Charcot Marie Tooth Disease (CMT), Muscular Dystrophies, Neurology, Peripheral Nerve Disorders, Spinal Muscular Atrophy more

Research Interests

Spinal muscular atrophy and Inherited Neuropathy

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Outside of Maryland & Washington D.C.

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The Johns Hopkins Hospital

Appointment Phone: 410-614-0093
600 N. Wolfe Street
Rangos, Room 248
Baltimore, MD 21287
Phone: 410-614-0093 | Fax: 410-502-5459
The Johns Hopkins Hospital - Google Maps

Johns Hopkins Outpatient Center (now called Levi Watkins, Jr., M.D., Outpatient Center)

Appointment Phone: 410-614-0093
601 N. Caroline St.
Baltimore, MD 21287
Johns Hopkins Outpatient Center (now called Levi Watkins, Jr., M.D., Outpatient Center) - Google Maps

Johns Hopkins Bayview Medical Center

Appointment Phone: 410-614-0093
4940 Eastern Avenue
Baltimore, MD 21224
Johns Hopkins Bayview Medical Center - Google Maps


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. She joined the neurology faculty at Johns Hopkins in 2006. more


  • Professor of Neurology
  • Professor of Genetic Medicine
  • Professor of Neuroscience

Departments / Divisions

Centers & Institutes



  • MD; Hospital of the University of Pennsylvania (1996)


  • Neurology; University of California San Francisco School of Medicine (2000)


  • Neuromuscular Medicine; Johns Hopkins University School of Medicine (2001)

Board Certifications

  • American Board of Psychiatry And Neurology (Neurology) (2001)

Research & Publications

Research Summary

Dr. Sumner’s laboratory research focuses on the genetic and cellular pathogenesis of motor neuron and peripheral nerve disorders with particular attention to identification of disease genes, characterization of molecular and cellular disease mechanisms, and preclinical development of therapeutics. Her research efforts contributed to the scientific foundations leading to three FDA-approved, gene-targeted treatments for proximal spinal muscular atrophy (SMA) caused by mutations of the survival motor neuron 1 gene (SMN1)-the first such treatments for a neurodegenerative disease. She also identified mutations of a cell surface expressed ion channel, transient receptor potential vanilloid 4 (TRPV4) as a cause of SMA and CMT2 and is currently developing treatment for this disorder. Her research contributions have been recognized by elected membership in the American Society of Clinical Investigators and the American Association of Physicians. She serves as an advisor to multiple SMA, CMT, and peripheral neuropathy nonprofit foundations, government, and private companies. She is the coeditor of the only comprehensive book on SMA: Spinal Muscular Atrophy Disease Mechanisms and Therapy. As part of a commitment to make gene targeting therapeutics accessible throughout the world, she chairs the Spinraza Individual Patient Humanitarian Access Program Medical Expert Committee. She is committed to teaching at all levels with particular attention to training individuals underrepresented in biomedicine and has been awarded several teaching awards.

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Recent News Articles and Media Coverage

A SMART Approach to SMA Research, NeuroLogic (March 2015)

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