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Tuberous Sclerosis caused by mutations in the genes hamartin (TSC1) or tuberin (TSC2) are amongst the commonest causes of autism and early childhood epilepsy. The seizures are often severe and drug-resistant. Both TSC1 and TSC2 are key components of the mTOR pathway and loss of function leads to hyper-activation of mTOR. We are using genome-engineered stem cell lines to investigate how tuberin might affect neurodevelopment and lead to abnormalities in neuronal networks and cell fate choices.

Researchers: Paula Rocktaeschel