Rett Syndrome

Cell type-specific alterations in a genetic animal model of Rett syndrome
2011 Seed Grant
Gianmaria Maccaferri, M.D., Ph.D.
Department of Physiology
Northwestern University

This proposal plans to test the hypothesis that a specific type of neuron, highly important for the early development of the cortex, is affected either in its functions or structure by mutations of a gene whose abnormal activity is implicated in Rett syndrome. This type of knowledge is important for the identification of early, cell type-specific pathological mechanisms that may lead to circuit dysfunctions. In addition, these insights may be also important for the future development of novel therapeutic strategies.

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