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Mary Chalkley


Department: Cell & Developmental Biology

Faculty Mentor: Kevin Ess, Ph.D.

Dissertation Description: Nonsense Mutation impact on neurodevelopment in tuberous sclerosis

Tuberous Sclerosis is a genetic disorder caused by a loss of function mutation in the genes TSC1 or TSC2 that leads to an overactive mTORC1. mTORC1 controls different cell processes like metabolism, cell growth, and translation among others. Patients with tuberous sclerosis experience the growth of benign tumors in their brains, kidneys, lungs, and eyes. The most debilitating symptom of tuberous sclerosis is neurological defects including seizures, autism, and neurodevelopmental delays. Using patient derived induced pluripotent stem cells, I study how a nonsense mutation in TSC2 leads to aberrant neurodevelopment.