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Current Medical Student Summer Research Fellows

·	Current Medical Student Research Fellows

Whitney Parker Institution: University of Pennsylvania Tuberous Sclerosis Complex (TSC) causes developmental brain malformations such as tubers and subependymal giant cell tumors (SGCTs) that are associated with epilepsy. TSC-related brain malformations occur as a result of mutations in the Tsc1 or Tsc2 genes, encoding the proteins hamartin (TSC1) and tuberin (TSC2). TSC1 and TSC2 form a functional heterodimer that negatively modulates the mTOR pathway and inhibits neuronal growth and differentiation. We will model TSC in mouse subventricular zone neural progenitor cells (mNPCs) using shRNA knockdown of Tsc1 or Tsc2 as a strategy to study the effects of loss of Tsc1 or Tsc2 function during early brain development. We will assay protein phosphorylation downstream of mTOR by Western analysis and immunocytochemistry to define aberrant constitutive mTOR activation. In addition, we hypothesize that Tsc gene knockdown will cause cells to remain in an undifferentiated state, as evidenced by expression of select proteins, including Sox1, VEGF, and EGFR.