Charlotte Sumner

American neurologist and researcher

Charlotte Sumner is an American neurologist and researcher known for her contributions to the understanding and treatment of spinal muscular atrophy (SMA). She is a professor of neurology and neuroscience at the Johns Hopkins University School of Medicine.

Early life and education

Charlotte Sumner was born and raised in the United States. She developed an early interest in the sciences, which led her to pursue a career in medicine. Sumner completed her undergraduate studies at Princeton University, where she earned a Bachelor of Arts in molecular biology. She then attended the University of Pennsylvania School of Medicine, where she obtained her Doctor of Medicine (MD) degree.

Career

After completing her medical degree, Sumner pursued a residency in neurology at the Johns Hopkins Hospital, one of the leading medical institutions in the world. Following her residency, she completed a fellowship in neuromuscular diseases, which solidified her interest in disorders such as spinal muscular atrophy.

Charlotte Sumner at NINDS

Sumner joined the faculty at Johns Hopkins University, where she has been involved in both clinical practice and research. Her research focuses on understanding the genetic and molecular mechanisms underlying spinal muscular atrophy, a genetic disorder characterized by the loss of motor neurons in the spinal cord, leading to muscle wasting and weakness.

Research contributions

Charlotte Sumner's research has significantly advanced the understanding of spinal muscular atrophy. She has been involved in identifying the role of the survival motor neuron (SMN) protein in the disease and has contributed to the development of therapeutic strategies aimed at increasing SMN protein levels in patients.

Sumner's work has been instrumental in the development of nusinersen, the first FDA-approved treatment for spinal muscular atrophy. Her research continues to explore novel therapeutic approaches, including gene therapy and small molecule drugs, to improve outcomes for patients with SMA.

Awards and honors

Throughout her career, Charlotte Sumner has received numerous awards and honors for her contributions to neurology and neuroscience. She is recognized as a leader in her field and has been invited to speak at various national and international conferences.

Related pages

• Spinal muscular atrophy
• Neurology
• Johns Hopkins University School of Medicine