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

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Manage episode 305599308 series 2980048
Content provided by Chris and Elizabeth Ouellette and Elizabeth Ouellette. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Chris and Elizabeth Ouellette and Elizabeth Ouellette or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://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

  continue reading

35 episodes

Artwork
iconShare
 
Manage episode 305599308 series 2980048
Content provided by Chris and Elizabeth Ouellette and Elizabeth Ouellette. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Chris and Elizabeth Ouellette and Elizabeth Ouellette or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://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

  continue reading

35 episodes

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