Title:
Mechanism-based Biomarker and Treatment Trials in Tuberous Sclerosis.

This presentation will review translational neuroscience research in a disease associated with high incidence of epilepsy and autism, tuberous sclerosis complex (TSC). Impactful research in TSC and related neurodevelopmental disorders will require reducing the boundaries between basic scientists and clinicians, between different departments and divisions as well as between academia and industry. Such research also allows for specialized centers of excellence to work in coordination with each other to address the challenges such rare genetic disorders raise.

Bio: 
Dr. Mustafa Sahin is the Neurologist-in-Chief, a pediatric neurologist, and a developmental neurobiologist at Boston Children's Hospital as well as a Professor of Neurology at Harvard Medical School and the Rosamund Stone Zander Chair at Boston Children’s Hospital. 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. At Boston Children’s, Dr. Sahin is the Director of the Translational Research Program, managing director of the Rosamund Stone Zander Translational Neuroscience Center, and the chair of Clinical and Translational Research Executive Committee. He is the co-PI of the Intellectual and Developmental Disabilities Research Center. He directs a national consortium to study biomarkers and comparative pathobiology in three genetic disorders (TSC, PHTS and Phelan McDermid Syndrome) all associated with autism and intellectual disability. He was elected to the National Academy of Medicine in 2023.