PhD Assistant Professor
Animal models of disease provide important information about basic biological processes; however, it would be ideal to investigate disease pathogenesis and develop therapeutics in a human cellular context. Recent advances in reprogramming technology have allowed the generation of induced pluripotent stem cells (iPSCs) from patients that can be differentiated into any cell type of interest. Importantly, this strategy preserves patient-specific genetic information and allows the establishment of human in vitro models for which primary cells cannot otherwise be obtained. We are currently using iPSCs and genetically engineered stem cells to generate a human neuronal model for the neurodevelopmental disorder Tuberous Sclerosis Complex (TSC). TSC is caused by mutations in the TSC1and 2 genes resulting in an array of neurological phenotypes including epilepsy, autism, and intellectual disability. We are investigating the impact of patient-specific and engineered mutations in TSC1/2 on cellular, synaptic and neural network properties using a combination of molecular, biochemical, and electrophysiological approaches in human neurons.