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Vanderbilt Department of Neurology

Neuromuscular Disorders

Neuromuscular Disease Research

Vanderbilt is a Muscular Dystrophy Association (MDA) Clinic Site and participates in the MDA Clinical Conference held annually in Las Vegas.  Dr. Peter Donofrio, MD is the director of the Vanderbilt MDA clinic. Vanderbilt also has a multidisciplinary MDA ALS clinic which serves ALS patients in Tennessee and surrounding states.   Dr. Jun Li staffs a Charcot Marie Tooth (CMT) Inherited Neuropathy Clinic. Dr. Li is also a member of the North American CMT Network and the NIH Rare Disease Consortium which provides infrastructure for CMT research.

Vanderbilt is a member of the Northeast ALS Consortium (NEALS) whose mission is to advance clinical research and treatments for people with Amyotrophic Lateral Sclerosis (ALS).  Through NEALS, Vanderbilt participates in multicenter ALS treatment trials and has access to the NEALS database for research projects. 

Vanderbilt is a Neuropathy Center of Excellence, recognized by the Peripheral Neuropathy Association.  Dr. Peter Donofrio is the director. 

Dr. Bryan Burnette is a currently a co-investigator on three multicenter clinical trials in pediatric neuromuscular disorders, including two international treatment trials in Duchenne Muscular Dystrophy, and the first project in the newly-constituted NIH Network for Excellence in Neuroscience Clinical Trials  (NeuroNEXT), a study of biomarkers in Spinal Muscular Atrophy. Dr. Burnette is also involved in collaborative clinical studies of cardiac disease in DMD and chemotherapy-induced peripheral neuropathy in children with acute lymphoblastic leukemia, as well as translational studies of inherited peripheral neuropathies.  

Dr. Peter Donofrio performs clinical trials of medications that have shown potential in the laboratory to improve disease course and improve patient function.  He is interested in ALS, myasthenia gravis, and peripheral neuropathy, Guillain-Barre Syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP). Dr. Donofrio also has interests in patient safety, quality of service to patients and medication reconciliation.

Dr. Christopher Lee’s research focus is in longitudinal study of ALS. He has completed research trials in muscle ultrasound and nerve excitability in ALS patients.  He is also investigating patient-initiated home respiratory parameter measurements to improve identification of patients requiring additional pulmonary support interventions.  Dr. Lee has also participated as a co-investigator in ALS treatment trials, and he has published work in the utility of database-driven protocols to evaluate the epidemiology of various neurologic diseases, including Guillain-Barré Syndrome.

Dr. Jun Li has been interested in Inherited Neuropathies (also called Charcot-Marie-Tooth disease or CMT) and Myelin Biology. Disabilities in many neurological diseases, including inherited neuropathies and motor neuron diseases, are usually caused by one of the two pathophysiological processes: conduction block and/or axonal degeneration. His laboratory investigates the molecular mechanisms of the two processes at different levels of biological system, including primary culture neurons/Schwann cells, genetically manipulated rodent models, and human subjects with inherited neuropathies or motor neuron diseases. For other details, please click the link to visit his laboratory website: http://www.mc.vanderbilt.edu/root/vumc.php?site=junlicmt

 

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