Developmental origins of Rett Syndrome and the cell-autonomous role of Fan1 in regulating disease severity

Rett syndrome is a brain development disorder that affects a person’s motor, coordination, and communication abilities. Improving the quality of life of children living with Rett Syndrome remains an unmet global priority, with few treatments available. Our team and others have shown that a DNA repair gene, Fan1, can influence the age of onset of Huntington disease and could also help with symptoms of brain disorders like Rett Syndrome. Fan1 is related to another gene often found to function differently in people with Rett Syndrome, but we don’t know how the two genes work together to change disease severity or which cells are involved in Rett Syndrome development. Our study will answer both questions. We think this will provide a base for future therapies to improve the quality of life for children and families requiring pediatric neurodevelopment and rehabilitation services in Manitoba.