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Stefan M. Pulst, M.D., Dr. med., is Professor and Chair of the Department of Neurology at the University of Utah School of Medicine, holding the Dale L. Rindlisbacher Endowed Chair in Neurodegeneration Research. He also serves as Adjunct Professor in Human Genetics. Dr. Pulst received his M.D. in 1979 and Dr. med. in 1983 from Medizinische Hochschule Hannover, West Germany. He completed a clinical fellowship from 1981 to 1983 at Harvard Medical School, neurology residency and chief residency in the Longwood Area Neurological Program at Harvard, and a postdoctoral fellowship in neurobiology at the University of California, San Francisco from 1984 to 1986.
Dr. Pulst's clinical and research interests focus on inherited diseases of the nervous system, emphasizing spinocerebellar ataxias, amyotrophic lateral sclerosis/frontotemporal dementia, and Parkinson’s disease. His laboratory investigates mechanisms of adult-onset neurodegeneration through genetic analysis of human pedigrees, cellular modeling, and mouse models. Studies examine RNA-binding proteins ATXN2 and STAUEN1 in autophagy, unfolded protein response under chronic stress, using transcriptomics, physiologic, and behavioral analyses. Key discoveries include identifying the SCA2 gene via CAG/polyglutamine expansion in ATXN2 (Pulst et al., Nature Genetics, 1996), mapping and solving SCA4 with ZFHX3 GGC-repeat expansion after 25 years (2024), developing antisense oligonucleotide therapy for SCA2, and a molecule diminishing alpha-synuclein deficits in Parkinson’s models. Additional contributions encompass the rat shaker gene and STAU1's role in RNA stress granules. Select publications are 'Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2' (1996), 'Spinocerebellar Ataxia Type 2' (Scoles DR, Pulst SM, Adv Exp Med Biol, 2018), and 'Staufen1 in Human Neurodegeneration' (Paul S et al., Annals of Neurology, 2021). Dr. Pulst leads the Pulst and Scoles Laboratories, received the NINDS Outstanding Investigator Award, and was elected AAAS Fellow in 2020.
