Professor of Neurology Harvard Medical School
Director, Translational Neuroscience Center
Director, Translational Research Program
Rosamund Stone Zander Chair
Boston Children’s Hospital
Conférence Zoom
https://zoom.us/j/92346521638?pwd=dTEwRUM3aUVYK2ozTlNTRnlKbnZaQT09
ID de réunion : 923 4652 1638
Code secret : 175440
Research Interests
The research in my laboratory is directed at understanding the cellular and circuit deficits underlying childhood neurological disorders. My lab predominantly focuses on Tuberous Sclerosis Complex, a genetic disease that presents often with epilepsy and autism. We have generated several lines of evidence showing that TSC/mTOR pathway plays crucial roles in axon specification, guidance, myelination and regeneration. More recently, we have been investigating the role of TSC/mTOR signaling cascade in specific circuits in the CNS. We have generated a cerebellar Purkinje neuron-specific knockout of Tsc1 that displays autistic features, such as impairments in social interaction, repetitive behaviors and ultrasonic vocalizations. Importantly, treating these mice with an mTOR inhibitor prevents the development of these aberrant behaviors. These experiments support the notion that neurological defect in Tsc-deficient mice can be blocked by postnatal mTORC1 inhibition and have led to the design of clinical trials in patients with TSC. Furthermore, by performing MRI and EEG studies in children with TSC, we have demonstrated that there are marked deficits in neuronal connectivity, which correlate with neurodevelopmental outcome.
