Stephan Züchner

Stephan Züchner, M.D., Ph.D., is a Professor of Human Genetics and Neurology at the University of Miami's Dr. John T. Macdonald Foundation Department of Human Genetics. His research focuses on identifying genetic variations linked to diseases, with expertise in neurodegenerative disorders like Alzheimer's, Parkinson's, and Charcot-Marie-Tooth disease. He leads initiatives such as the SEEC consortium, part of the NIH's All of Us Research Project, aiming to study over one million participants with genomic and health data. His lab develops advanced bioinformatics tools (e.g., ExpansionHunter, MAVERICK) and pioneers genetic therapies using CRISPR/Cas9 and antisense oligonucleotides.

Education: MD and PhD from RWTH Aachen University (Germany), followed by postdoctoral training at Duke University Medical Center's Center for Human Genetics.

Research interests include rare disease gene discovery, large-scale genomic analysis, and translational therapies. He co-leads major consortia like the Inherited Neuropathy Consortium and the Undiagnosed Diseases Network. His lab has identified over 50 novel disease genes, published in top journals, and holds multiple patents for diagnostic and therapeutic applications.

Awards include Fellow of the American Academy of Neurology and a Doctor Honoris Causa from Semmelweis University. His work bridges clinical neurology, molecular genetics, and computational biology to advance personalized medicine.