Understand mTOR hyperactivation during cellular interactions using a single-cell approach
The human brain is vulnerable to too much of mTOR signaling, An important neuronal pathway regulating neuronal development and activity. We study TSC, a neurodevelopmental disorder in which patients inherit a germline heterozygous mutation in genes regulating the mTOR pathway and commonly, a second somatic mutation causing mTOR hyperactivation in a small number of brain cells in the neocortex, an important brain region implicated in cognition dysfunction and epilepsy. How mTOR hyperactivation in a small number of brain cells drive systemic dysfunction is not fully understood. This project will perform single-cell RNA-sequencing and detailed molecular and cellular analyses using a novel mouse model to recapitulate the symptom and identify druggable candidates that can be used to specifically target cells with mTOR hyperactivation and reduce disease manifestation.
Wei-Hsiang Huang , L’institut de recherche du centre universitaire de santé McGill/ The Research Institute of the McGill University Health Centre
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