Stefan M. Pulst is a physician‑scientist specializing in neurology and neurogenetics. He is a professor of Neurology at the Johns Hopkins University School of Medicine and serves in leadership roles within the department, including as director of research programs focused on hereditary neurodegenerative disorders.
Education and training
Pulst obtained his medical degree (M.D.) and doctoral degree (Ph.D.) in Germany, completing postgraduate training in neurology and clinical neurophysiology. He subsequently undertook postdoctoral and clinical fellowships in the United States, where he established his research career.
Research focus
Pulst’s research concentrates on the genetic mechanisms underlying neurodegenerative diseases, particularly spinocerebellar ataxias (SCAs), amyotrophic lateral sclerosis (ALS), and related motor neuron disorders. His laboratory has identified disease‑causing mutations, elucidated pathogenic pathways, and explored potential therapeutic strategies. Notable contributions include work on the SCA2 gene (ATXN2) and its role in ALS susceptibility.
Publications and professional activities
He has authored or co‑authored hundreds of peer‑reviewed articles in journals such as Nature Genetics, Neurology, and The American Journal of Human Genetics. Pulst serves on editorial boards of several neuroscience and genetics journals and has held positions on grant review panels for the National Institutes of Health (NIH). He is a member of professional societies including the American Academy of Neurology and the International Parkinson and Movement Disorder Society.
Awards and honors
Pulst has received multiple recognitions for his contributions to neurogenetics, including research awards from the American Neurological Association and funding grants from the NIH and private foundations. He is also listed among elected fellows of the American Association for the Advancement of Science.
Impact
Through translational research bridging molecular genetics and clinical neurology, Pulst’s work has advanced understanding of inherited ataxias and motor neuron diseases, influencing both diagnostic practices and the development of experimental therapeutics.