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The 52nd Robert B. Aird Visiting Professor of Neurology 

Charlotte J. Sumner, M.D.
Professor, Departments of Neurology, Neuroscience and Genetic Medicine
Johns Hopkins University

Breakdown of blood neural barriers and motor neuron degeneration

Learning objectives:

1. Understand the clinical features and causes of genetic motor neuron diseases
2. Illustrate the role of blood neural barriers in neurodegenerative diseases
3. Analyze the potential of the TRPV4 channel as a therapeutic target.

Dr. Sumner is a Daniel Nathans Scientific Innovator and the Vice Chair for Clinical Research in the Department of Neurology at Johns Hopkins. She is also President of the Peripheral Nerve Society.

Dr. Sumner cares for patients with genetically-mediated neuromuscular diseases and 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 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 work contributed to the scientific foundations leading to three new approved gene directed therapeutics in SMA. Her work has been recognized by receipt of a NINDS R35 Research Program Award and elected membership in the American Society of Clinical Investigators (ASCI), the Interurban Clinical Club, and the American Association of Physicians (AAP). She serves as an advisor to multiple SMA, CMT, and peripheral neuropathy nonprofit foundations, government, and private companies. Dr. Sumner’s teaching and mentorship have been recognized with awards from medical students, residents, and research mentees including the NINDS Landis Award for Outstanding Mentorship.  

 

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