In this lecture, Mustafa Sahin will present the rationale for investigating Tuberous Sclerosis Complex (TSC) as a way to understand the cellular and circuitry alterations underlying autism spectrum disorder. Using a combination of cell culture, mouse behavior and human EEG and MRI experiments, Sahin and colleagues have demonstrated abnormalities in neuronal connectivity and neuron-glia interactions in TSC. Inhibitors of mTOR proteins are effective in mouse models of TSC and are being tested in clinical trials now. Insights from TSC can also provide insights for related neurodevelopmental disorders in which similar cellular and circuit abnormalities can be detected.

Dr. Sahin is a developmental neurobiologist and a pediatric neurologist. He received his B.S. degree from Brown University, 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. He is currently the director of the Translational Neuroscience Center at Boston Children's Hospital and a professor of neurology at Harvard Medical School. He directs two national consortia to study biomarkers and comparative pathobiology of TSC and related neurodevelopmental disorders.