[Recording unavailable]
This webinar will introduce the classification of inherited peripheral neuropathies typically called Charcot Marie Tooth disease. Then Dr. Shy will present the most frequent forms of the Autosomal Dominant, X-linked and Recessively inherited forms of CMT along with guidelines on why each would be likely given their clinical presentations. Dr. Shy will discuss very briefly molecular pathogenesis for these disorders and provide films of patients with the disorders.
Dr. Shy is a certified Neurologist who received his training at Columbia Presbyterian Medical Center in New York. He completed a fellowship in Neuroimmunology at Columbia prior to accepting a faculty position at Thomas Jefferson University in Philadelphia. He subsequently served as Professor of Neurology at Wayne State University in Detroit where he initiated the first specialized CMT clinic. In 2012 he moved to the University of Iowa as Professor of Neurology, Pediatrics and Physiology. He currently serves as Director of the Neuromuscular and Neurogenetics Divisions. Dr. Shy receives funding from the National Institutes of Health, the Muscular Dystrophy Association, and the Charcot Marie Tooth Association. He is Principal Investigator of the Inherited Neuropathy Consortium which is a member of the Rare Disease Clinical Research Network (RDCRN) which currently follows approximately 6,000 individuals with Charcot Marie Tooth Disease. Dr. Shy has published more than 250 manuscripts, mainly concerning inhertied peripheral neuropathies.
Susan Toomey joined Ambry Genetics in 2017 as the General Genetic Specialist for the Mountain and Pacific Northwest territories. Susan received her Masters of Science Degree in Biophysics and Genetics from the University of Colorado; and holds a BA in Sociology and Evolutionary Science from the University of Cincinnati. She has held previous genetic counseling positions at the Colorado Genetics Laboratory, Colorado Center for Reproductive Medicine, and the Children’s Hospital Colorado in the Neurocutaneous and Neuromuscular Clinics.
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