Grant: Operating Grant

Fragile-X syndrome (FXS) is a neurodevelopmental disorder that represents the most common single-gene cause of autism and inherited intellectual disability. In Canada, it affects 1 in 4,000 boys and 1 in 6,000 girls regardless of race or ethnic background. FXS results from disrupted expression of the Fragile X mental retardation protein (FMRP); a RNA binding protein essential for normal brain development. Despite this level of understanding, there is still no cure or specific treatment for FXS. Consequently, any future advances will rely on a better understanding of how the absence of FMRP leads to deficits in the FXS brain. In this grant application, we will study the impact of FXS on the cerebellum; a brain region traditionally associated with motor function. The developing cerebellum also affects cognition and it is proposed that disrupted signalling from the cerebellum to brain regions involved in cognition cause many features of autism and FXS. We will study how defects in the neuronal circuits within the cerebellum impact its output to other brain regions. This work will therefore provide new perspective and insight into this debilitating CNS disorder.