))
Dr. Stephan Züchner: Exciting Genetic Discoveries Lead to Life-Changing CMT Therapies
Manage episode 305599308 series 2980048
Indhold leveret af Chris and Elizabeth Ouellette and Elizabeth Ouellette. Alt podcastindhold inklusive episoder, grafik og podcastbeskrivelser uploades og leveres direkte af Chris and Elizabeth Ouellette and Elizabeth Ouellette eller deres podcastplatformspartner. Hvis du mener, at nogen bruger dit ophavsretligt beskyttede værk uden din tilladelse, kan du følge processen beskrevet her https://da.player.fm/legal.
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.
For more information about CMT and to support the CMTA, please visit www.cmtausa.org
For more information about CMT and to support the CMTA, please visit www.cmtausa.org
35 episoder
Del
