CMT 4 Me

Dr. Stephan Züchner: Exciting Genetic Discoveries Lead to Life-Changing CMT Therapies

October 27, 2021 Chris and Elizabeth Ouellette Season 1 Episode 3
CMT 4 Me
Dr. Stephan Züchner: Exciting Genetic Discoveries Lead to Life-Changing CMT Therapies
Show Notes

Genetic genius Stephan Züchner, M.D., Ph.D., is a professor and chair of the Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine. His work focuses on identifying new disease-causing mutations in CMT patients. Dr. Züchner and colleagues recently discovered that mutations in the sorbitol dehydrogenase gene (SORD) causes a recessive, axonal form of CMT that may be treatable.  Learn all about his exciting research pointing to possible CMT treatments.

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