Charlotte Sumner

Charlotte Sumner, MD is a Professor of Neurology, Neuroscience, and Genetic Medicine at Johns Hopkins University School of Medicine. She leads a laboratory focused on genetic and molecular mechanisms underlying motor neuron diseases like spinal muscular atrophies (SMA) and Charcot-Marie-Tooth (CMT) disorders. Her research integrates clinical insights with preclinical models, emphasizing early therapeutic intervention strategies.

Key areas of expertise include:

• TRPV4 ion channel dysfunction in neurodegeneration
• SMN protein biology in SMA pathogenesis
• Gene therapy development for neuromuscular disorders
• Neurovascular interactions in disease progression

Her lab employs multidisciplinary approaches including human genetic studies, mouse models, cellular assays, and clinical specimen analysis. Current projects investigate novel genetic causes of motor neuron diseases, molecular mechanisms of axonal degeneration, and combination therapies for SMA. Recent work demonstrated endothelial barrier defects in TRPV4-related disorders and identified SMN-AS1 as a new therapeutic target.

Lab personnel include postdoctoral fellow Elana Molotsky and graduate students Anna Bagnell (Cellular and Molecular Medicine), Jonathan Alevy (Neuroscience), Stephen Brown (Pathobiology), and Maddi Denton (Genetic Medicine). Collaborative networks span Johns Hopkins' departments of Neurology, Neuroscience, and Genetic Medicine.