Abnormal brain development in a rat model of Hirschsprung's disease

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Hirschsprung's disease (HSCR) is a congenital malformation characterized by the absence of enteric ganglia (aganglionosis) and is associated with a variety of neurological disorders. HSCR in human, rat and mouse is polygenic, and the endothelin receptor B (ETRB) gene mutation is involved. My main scientific goal is to understand the cellular, molecular and functional abnormalities in the brains of HSCR patients, using a rat model of HSCR caused by an ETRB mutation (spotting lethal rat, sl rat). New understanding of the cellular and molecular changes in the brains of HSCR patients will allow investigation of functional defects in autonomic nerves and cognition, and will contribute to the development of therapies for these neurological defects.

Updated:  24 October 2017/Responsible Officer:  Director, JCSMR/Page Contact:  Web Manager