Mustafa Sahin, M.D., Ph.D.

Director, Translational Neuroscience Center, Boston Children’s Hospital
Professor in Neurology, Harvard Medical School

SFARI Investigator Website

Mustafa Sahin is a developmental neurobiologist and a pediatric neurologist at Boston Children’s Hospital and Harvard Medical School. He received his Sc.B. degree from Brown University and his M.D. and Ph.D. from Yale School of Medicine. He completed a pediatrics residency at Children’s Hospital of Philadelphia and a child neurology residency at Boston Children’s Hospital. Sahin is a professor at Harvard Medical School and the Rosamund Stone Zander Chair at Boston Children’s Hospital. At Boston Children’s, Sahin is the director of the Translational Research Program and the Translational Neuroscience Center. He is also the founder and director of the Multidisciplinary Tuberous Sclerosis Program at Boston Children’s Hospital.

Work in his lab has identified the mechanisms by which tuberous sclerosis complex (TSC) leads to miswiring of neurons in the brain and potential therapies for this disorder. The lab uses a combination of human neurons in culture, animal models and clinical studies and has generated several lines of evidence showing that the TSC/mTOR pathway plays crucial roles in axon specification, guidance, myelination and regeneration. Current research focuses on translating these preclinical findings into the clinic and developing treatments for epilepsy and autism associated with activation of the mTOR pathway. He directs two national consortia to study biomarkers and comparative pathobiology of TSC and related neurodevelopmental disorders.

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Funded Projects

SFARI Funded Publications

A recurrent SHANK3 frameshift variant in autism spectrum disorder. Loureiro L.O., Howe J.L., Reuter M., Iaboni A., Calli K., Roshandel D., Pritišanac I., Moses A., Forman-Kay J.D., Trost B., Zarrei M., Rennie O., Lau L., Marshall C.R., Srivastava S., Godlewski B., Buttermore E., Sahin M., Hartley D., Frazier T., Vorstman J., Georgiades S., Lewis S.M., Szatmari P., Bradley L., Tabet A.-C., Willems M., Lumbroso S., Piton A., Lespinasse J., Delorme R., Bourgeron T., Anagnostou E., Scherer S. W.
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