Faculty : Stephan Züchner, M.D., Ph.D.

Stephan Züchner, M.D., Ph.D.

Professor, Neurology
Co-Director, John P. Hussman Institute for Human Genomics
Chair and Professor, Dr. John T. Macdonald Foundation Department of Human Genetics

Stephan Züchner, M.D., Ph.D., M.D. (h.c.), FAAN, is a Professor of Human Genetics and Neurology at the University of Miami Miller School of Medicine. He serves as the Chairman of the Dr. John T. Macdonald Foundation Department of Human Genetics (DHG) and the Co-Director of its Hussman Institute for Human Genomics. Over the past decade, DHG has quickly risen and is now ranked consistently #4 in the USA (BRMRI). Dr. Zuchner is ranked amongst the five highest funded genetic researchers in the country.
Dr. Züchner obtained his medical degree from RWTH Aachen University Medical School, where he also completed residencies in Neurology and Neuropathology and his ‘Dr. Med.’ degree (Ph.D. equivalent). Dr. Züchner completed his postdoctoral studies at Duke University Medical Center in Durham, North Carolina, where he subsequently achieved Assistant Professor status. In 2007, he moved to the University of Miami as one of the founding faculty of the HIHG. In 2015, he received an honorary doctorate degree from the Semmmelweis Medical School at University of Budapest, Hungary, for his contributions to next-generation sequencing and international studies of rare diseases.
Dr. Züchner’s research interests are focused on identifying genetic variation with a strong biological effect associated with disease. His lab is internationally renowned for supporting the identification of many disease gene linkages, including for neuropathies, spastic paraplegias, ataxias, Alzheimer disease, Parkinson disease, and obsessive-compulsive disorder. His group is amongst the pioneering groups that have promoted genome sequencing methods for disease gene identification in humans, mice, worm, and drosophila. He is currently pursuing large – scale genome analyses in multiple neurodegenerative disorders and is developing novel personalized genetic therapies for inherited diseases.

Top Publications:

  • Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920. PMID: 30926972; PMCID: PMC6709527.
  • Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Erratum in: Nat Genet. 2020 Jun;52(6):640. PMID: 32367058.
  • All of Us Research Program Investigators, Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E. The “All of Us” Research Program. N Engl J Med. 2019 Aug 15;381(7):668-676. doi: 10.1056/NEJMsr1809937. PMID: 31412182.
  • Osterloh JM, Yang J, Rooney TM, Fox AN, Adalbert R, Powell EH, Sheehan AE, Avery MA, Hackett R, Logan MA, MacDonald JM, Ziegenfuss JS, Milde S, Hou YJ, Nathan C, Ding A, Brown RH Jr, Conforti L, Coleman M, Tessier-Lavigne M, Züchner S, Freeman MR. dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science. 2012 Jul 27;337(6093):481-4. doi: 10.1126/science.1223899. Epub 2012 Jun 7. PMID: 22678360; PMCID: PMC5225956.
  • Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. PMID: 26168012; PMCID: PMC4520737.
  • Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Erratum in: Nat Genet. 2004 Jun;36(6):660. Battologlu E [corrected to Battaloglu E]. PMID: 15064763.