
Charlotte Jane Sumner, MD
Neuromuscular Medicine
- Johns Hopkins School of Medicine Faculty
About Charlotte Jane Sumner
Primary Academic Title
Professor of Neurology
Background
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.
Centers and Institutes
Recent News Articles and Media Coverage
A SMART Approach to SMA Research, NeuroLogic (March 2015)
Additional Academic Titles
Professor of Genetic Medicine, Professor of Neuroscience
Research Interests
Spinal muscular atrophy and Inherited Neuropathy
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.
Locations
- Johns Hopkins Outpatient Center
- 601 North Caroline Street, Floor 5, Baltimore, MD 21287
- phone: 410-955-9441
- fax: 410-955-6402
Expertise
Education
Johns Hopkins University School of Medicine
Fellowship, Neuromuscular Medicine, 2001University of California San Francisco School of Medicine
Residency, Neurology, 2000University of Pennsylvania Medicine
Medical Education, MD, 1996Board Certifications
Neurology
American Board of Psychiatry and Neurology, 2001Insurance
- Aetna
- CareFirst
- Cigna
- First Health
- Geisinger Health Plan
- HealthSmart/Accel
- Humana
- Johns Hopkins Health Plans
- MultiPlan
- Pennsylvania's Preferred Health Networks (PPHN)
- Point Comfort Underwriters
- Private Healthcare Systems (PHCS)
- UnitedHealthcare
- Veteran Affairs Community Care Network (Optum-VACCN)
Ratings & Reviews
4.9 out of 5
67 ratings, 29 reviewsThe Patient Rating score is an average of all responses to physician related questions on the national CG-CAHPS Medical Practice patient experience survey through Press Ganey. Responses are measured on a scale of 1 to 5, with 5 being the best score. Comments are also gathered from our CG-CAHPS Medical Practice Survey through Press Ganey and displayed in their entirety. Patients are de-identified for confidentiality and patient privacy.
- 5 out of 5 starsReviewed on 11/25/2024
Outstanding doctor. Took a lot of time to talk with me, did a very thorough exam, explained everything very well. Showed great empathy. Cannot ask for a better doctor.
- 5 out of 5 starsReviewed on 11/11/2024
Dr Sumner is an excellent doctor who is genuinely concerned over the health of her patients.
- 5 out of 5 starsReviewed on 10/14/2024
One of the friendliest and most thorough doctors I've ever seen.
- 5 out of 5 starsReviewed on 10/14/2024
Very thorough
- 5 out of 5 starsReviewed on 10/7/2024
Kind, thorough and knowledgeable
- 5 out of 5 starsReviewed on 9/18/2024
Dr. Sumner is very knowledgeable in her field of expertise. I just wish we had more information about the TRPV4 gene for those of us that our outside the scope.
- 5 out of 5 starsReviewed on 8/26/2024
Received more answers than I have in years.
- 5 out of 5 starsReviewed on 7/29/2024
Dr. Sumner is very caring. She listens & answers any questions [Patient] has or his Mom. She makes suggestions to [Patient] to research [ ] when he asks of a cure. Dr. Sumner went out of her way to fit [Patient] into her busy schedule & gave him a later appointment. That was very helpful so we didn't have to ask our caregiver to come in earlier.
- 5 out of 5 starsReviewed on 7/29/2024
Dr. Sumner and Dr. [ ] were Incredibly helpful! They really took the time to explain everything and to answer anything we had questions about. Both of them wanted to make sure we were receiving the best medical care going forward.
- 5 out of 5 starsReviewed on 7/22/2024
Very nice and helpful
- 5 out of 5 starsReviewed on 7/22/2024
Dr. Charlotte Sumner was very professional, friendly, and easy to converse with.
- 5 out of 5 starsReviewed on 7/22/2024
Dr. Sumner and [Staff] provided excellent care and attention at all phases of my visit.
- 5 out of 5 starsReviewed on 7/15/2024
Very professional and knowledgeable
- 5 out of 5 starsReviewed on 7/10/2024
Dr Sumner is the BEST. She is a top expert in my illness, extremely competent, compassionate, respectful, and gives her all to support me in improving my medical situation. She goes beyond all expectations. I am truly blessed to have her as my doctor!
- 5 out of 5 starsReviewed on 7/8/2024
Very pleased with Dr.Sumner and her associate. Very thorough.
- 5 out of 5 starsReviewed on 7/8/2024
She is very professional, warm and caring.
- 5 out of 5 starsReviewed on 7/1/2024
What a pleasure it was to be shown into exam room and Dr Sumner was there already, stood , welcomed us and shook hands very warmly. We felt welcome
- 5 out of 5 starsReviewed on 6/19/2024
Dr. Sumner is always very thorough during her examination and takes time to explain good points and not so good points.
- 4 out of 5 starsReviewed on 6/17/2024
Nice
- 5 out of 5 starsReviewed on 6/3/2024
Dr Sumner was very professional, knowledgeable and caring
- 5 out of 5 starsReviewed on 5/13/2024
Dr Sumner is very caring, atentive, warm .. A very special person!!!!! You feel very comfortable talking and asking any questions about your health.. You know that she is listening to you, she gives you time to explain and describe what the issue that you're asking about!!!! You know that in the moment that you walk into her office her focus is 100% on you I love her very much!!!!!
- 5 out of 5 starsReviewed on 5/13/2024
Very good.
- 5 out of 5 starsReviewed on 5/6/2024
This was my first visit with Dr. Sumner. She had taken the time to review my records before my visit, she was very attentive, compassionate and knowledgeable. Best visit I've had in several years.
- 5 out of 5 starsReviewed on 4/22/2024
She listens and is sincerely interested in my health
- 4 out of 5 starsReviewed on 4/15/2024
Professional, direct and knowledgeable
- 5 out of 5 starsReviewed on 4/1/2024
Dr Sumner is the best She listens to your concerns and provides excellent guidance
- 5 out of 5 starsReviewed on 3/25/2024
The Best!
- 5 out of 5 starsReviewed on 3/4/2024
Excellent, very humane and concerned about my case.
- 5 out of 5 starsReviewed on 2/26/2024
I can not say enough about Dr Sumner. She listened to me during my visit. She performed a thourough exam. She personally called me and reviewed my test results.