Stephan Züchner, M.D., Ph.D.
- Chair and Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
- Professor, Neurology,co-Director, John P. Hussman Institute for Human Genomics
- Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
- The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers.
- Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
- Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type .
- List of Publications
Stephan Züchner, M.D., Ph.D., is a Professor and Chair for the Dr. John T. Macdonald Foundation Department of Human Genetics. He is a trained neurologist and molecular geneticist with research interests in identifying genetic variation associated with disease. His lab has identified several genes for Mendelian neurodegenerative disorders and also evaluated risk factors for complex genetic conditions, including Alzheimer disease, Parkinson disease, and obsessive-compulsive disorder. His lab is amongst the pioneering groups that have promoted genome sequencing methods for disease gene identification in humans, mice, and drosophilia. He is currently pursuing large-scale exome and genome analysis in multiple neurodegenerative disorders and develops innovative new software tools that allow real time shared analysis of large amounts of genomic data.