Tuberous Sclerosis: Shedding Light on the Neural Circuitry of Autism

In this lecture, Dr. 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.