Tag Archives: Causes of autism

Genetics of Fragile X Syndrome

While only a small portion of autism spectrum disorders (ASDs) can be traced to their genetic roots, those that can are most often part of Fragile X syndrome (FXS), the most commonly known single-gene cause of autism. FXS is associated with the loss of the FMR protein (FMRP) coded by the mental retardation gene 1, FMR1 gene.

While scientists understand the biochemical nuances of these mutations, their implications on neuronal development and function remain a mystery. To address this puzzle, HSCI Associate Faculty member Stephen Haggarty, PhD, reprogrammed a series of both mutated and non-mutated cells back into a stem
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