Charlotte Sumner

Charlotte Jane Sumner is an American neurologist. She is a professor of neurology at Johns Hopkins School of Medicine. Dr. Sumner cares for patients with genetically-mediated neuromuscular diseases. 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.[2]

Charlotte Sumner
Sumner in 2019, capturing images of brainstem sections from a patient who died of an inherited motoneuron disease.[1]
Alma materPrinceton University (B.A.)
Perelman School of Medicine at the University of Pennsylvania (M.D.)
Scientific career
FieldsNeurology, neuroscience
InstitutionsJohns Hopkins School of Medicine

Education

Sumner graduated with a bachelor of arts in ecology and evolutionary biology, magna cum laude, from Princeton University in 1991. She completed a doctor of medicine at Perelman School of Medicine at the University of Pennsylvania. She was an intern in internal medicine from 1996 to 1997 at University of California, San Francisco (UCSF). Sumner completed a residency in neurology at UCSF from 1997 to 2000. From 2000 to 2001, she completed a fellowship in neuromuscular disease at Johns Hopkins School of Medicine. She was a fellow in neurogenetics in Kenneth Fischbeck's lab at the National Institute of Neurological Disorders and Stroke from 2001 to 2006.[3]

Career

Sumner joined the faculty at Johns Hopkins University as an assistant professor of neurology in 2006. In 2010, she became the co-director of the Charcot Marie Tooth Disease Clinic. In 2011, Sumner became an assistant professor of neuroscience. She became an associate professor of neurology and neuroscience in 2011.[3] She is a professor of neurology at Johns Hopkins University as of 2019.[4]

Research

Sumner researches 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 provided the scientific foundations for three FDA-approved, gene-targeted treatments for SMA (the first such treatments for a neurodegenerative disease) and have been recognized by elected membership in the American Society of Clinical Investigation[5] and the Association of American 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.[6] As part of a commitment to make gene targeting therapeutics accessible throughout the world, she is currently chairing the Spinraza Individual Patient Humanitarian Access Program Medical Expert Committee.[7] She is committed to teaching at all levels with particular attention to training individuals underrepresented in biomedicine and has been awarded several teaching awards.

Website: https://www.sumnerlab.com/

Personal life

Sumner is a member of the LGBT community and participates in the OUTList network of mentors at Johns Hopkins University.[8]

References
  1. "Zeiss Axiovert photomicroscope". National Institute of Neurological Disorders and Stroke. Archived from the original on March 6, 2019. Retrieved March 3, 2019.
  2. "Charlotte Jane Sumner, M.D., Professor of Neurology". Johns Hopkins Medicine. Retrieved September 20, 2021.
  3. "Charlotte Sumner". neuroscience.jhu.edu. Retrieved March 3, 2019.
  4. "Charlotte Jane Sumner, M.D." www.hopkinsmedicine.org. Retrieved March 3, 2019.
  5. "The American Society for Clinical Investigation". Retrieved September 20, 2021.
  6. Sumner, Charlotte J.; Paushkin, Sergey; Ko, Chien-Ping (October 24, 2016). Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Academic Press. ISBN 978-0-12-803686-0.
  7. "Official Patient Site | SPINRAZA® (nusinersen)". www.spinraza.com. Retrieved September 20, 2021.
  8. "OUTlist Members". LGBTQ Life. Retrieved February 26, 2019.
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