Charlotte Sumner

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

Charlotte Jane Sumner is an American neurologist. She is a professor in the Departments of Neurology and Neuroscience at Johns Hopkins School of Medicine. Dr. Sumner cares for patients with genetically mediated neuromuscular diseases and directs a laboratory focused on developing treatments for these 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]

Contents

Education

Dr. 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 and was recognized for her investigative and clinical work with the Dr. O.H. Pepper Award in 1996. She was a Howard Hughes Medical Research Scholar at National Institutes of Health between 1993 and 1994. She was an intern in internal medicine from 1996 to 1997 at University of California, San Francisco (UCSF) and 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

Dr. Sumner joined the faculty at the Johns Hopkins University School of Medicine as an assistant professor of neurology in 2006. In 2011, Sumner became an assistant professor of neuroscience. She became an associate professor of Neurology and Neuroscience in 2011 [3] and a full Professor of as of 2019. [4]

Clinical Activities and Teaching

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 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 including training individuals underrepresented in biomedicine. She has been the recipient of several teaching awards.

Research

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 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 Investigation [5] and the Association of American Physicians. She serves as an advisor to multiple SMA, CMT, and peripheral neuropathy nonprofit foundations, and private companies.

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

Personal life

Dr. Sumner is a member of the LGBT community and participates in the OUTList network of mentors at Johns Hopkins University. [6]

Related Research Articles

<span class="mw-page-title-main">Charcot–Marie–Tooth disease</span> Neuromuscular disease

Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).

<span class="mw-page-title-main">Spinal muscular atrophies</span> Group of disorders

Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons and subsequent atrophy (wasting) of various muscle groups in the body. While some SMAs lead to early infant death, other diseases of this group permit normal adult life with only mild weakness.

Degenerative disease is the result of a continuous process based on degenerative cell changes, affecting tissues or organs, which will increasingly deteriorate over time.

<span class="mw-page-title-main">Spinal and bulbar muscular atrophy</span> Medical condition

Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.

Polyneuropathy in dogs and cats is a collection of peripheral nerve disorders that often are breed-related in these animals. Polyneuropathy indicates that multiple nerves are involved, unlike mononeuropathy. Polyneuropathy usually involves motor nerve dysfunction, also known as lower motor neuron disease. Symptoms include decreased or absent reflexes and muscle tone, weakness, or paralysis. It often occurs in the rear legs and is bilateral. Most are chronic problems with a slow onset of symptoms, but some occur suddenly.

<span class="mw-page-title-main">Neuromuscular disease</span> Medical condition

A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur.

Neuromuscular medicine is a subspecialty of neurology and physiatry that focuses the diagnosis and management of neuromuscular diseases. The field encompasses issues related to both diagnosis and management of these conditions, including rehabilitation interventions to optimize the quality of life of individuals with these conditions. This field encompasses disorders that impact both adults and children and which can be inherited or acquired, typically from an autoimmune disease. A neurologist or physiatrist can diagnose these diseases through a clinical history, examination, and electromyography including nerve conduction studies. Many recent drug therapies have been developed to address the acquired neuromuscular diseases including but not limited to immune suppression and drugs that increase the neurotransmitters at the neuromuscular junction. Gene modifying therapies are also a recent treatment branch of neuromuscular medicine with advancements made in disorders such as spinal muscular atrophy and Duchenne muscular dystrophy. 

<span class="mw-page-title-main">Progressive muscular atrophy</span> Medical condition

Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.

<span class="mw-page-title-main">Spinal muscular atrophy</span> Rare congenital neuromuscular disorder

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures.

<span class="mw-page-title-main">Glycine—tRNA ligase</span> Protein-coding gene in the species Homo sapiens

Glycine—tRNA ligase also known as glycyl–tRNA synthetase is an enzyme that in humans is encoded by the GARS1 gene.

<span class="mw-page-title-main">Hereditary motor and sensory neuropathy</span> Medical condition

Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication. HMSN are characterised by atypical neural development and degradation of neural tissue. The two common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies. In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities.

<span class="mw-page-title-main">X-linked spinal muscular atrophy type 2</span> Medical condition

X-linked spinal muscular atrophy type 2, also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons.

<span class="mw-page-title-main">Distal spinal muscular atrophy type 1</span> Medical condition

Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.

<span class="mw-page-title-main">Olesoxime</span> Chemical compound

Olesoxime (TRO19622) is an experimental drug formerly under development by the now-defunct French company Trophos as a treatment for a range of neuromuscular disorders. It has a cholesterol-like structure and belongs to the cholesterol-oxime family of mitochondrial pore modulators.

<span class="mw-page-title-main">Spinal muscular atrophy with progressive myoclonic epilepsy</span> Rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known human families are described in scientific literature to have SMA-PME.

<span class="mw-page-title-main">Epigenetics of neurodegenerative diseases</span> Field of study

Neurodegenerative diseases are a heterogeneous group of complex disorders linked by the degeneration of neurons in either the peripheral nervous system or the central nervous system. Their underlying causes are extremely variable and complicated by various genetic and/or environmental factors. These diseases cause progressive deterioration of the neuron resulting in decreased signal transduction and in some cases even neuronal death. Peripheral nervous system diseases may be further categorized by the type of nerve cell affected by the disorder. Effective treatment of these diseases is often prevented by lack of understanding of the underlying molecular and genetic pathology. Epigenetic therapy is being investigated as a method of correcting the expression levels of misregulated genes in neurodegenerative diseases.

<span class="mw-page-title-main">Nusinersen</span> Medication used for spinal muscular atrophy

Nusinersen, marketed as Spinraza, is a medication used in treating spinal muscular atrophy (SMA), a rare neuromuscular disorder. In December 2016, it became the first approved drug used in treating this disorder.

Distal hereditary motor neuropathy type V is a particular type of neuropathic disorder. In general, distal hereditary motor neuropathies affect the axons of distal motor neurons and are characterized by progressive weakness and atrophy of muscles of the extremities. It is common for them to be called "spinal forms of Charcot-Marie-Tooth disease (CMT)", because the diseases are closely related in symptoms and genetic cause. The diagnostic difference in these diseases is the presence of sensory loss in the extremities. There are seven classifications of dHMNs, each defined by patterns of inheritance, age of onset, severity, and muscle groups involved. Type V is a disorder characterized by autosomal dominance, weakness of the upper limbs that is progressive and symmetrical, and atrophy of the small muscles of the hands.

<span class="mw-page-title-main">Risdiplam</span>

Risdiplam, sold under the brand name Evrysdi, is a medication used to treat spinal muscular atrophy (SMA) and the first oral medication approved to treat this disease.

Mary M. Reilly FRCP is an Irish neurologist who works at National Hospital for Neurology and Neurosurgery. She studies peripheral neuropathy. She is the President of the Association of British Neurologists.

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. 1 2 "Charlotte Sumner". neuroscience.jhu.edu. Archived from the original on February 23, 2020. 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. "OUTlist Members". LGBTQ Life. Retrieved February 26, 2019.
PD-icon.svg This article incorporates public domain material from websites or documents of the National Institutes of Health.