Gabel will utilize mouse models to explore how ASD-associated mutations in DNMT3A alter DNA methylation in the brain and drive ASD pathology.
Christopher Gregg and colleagues demonstrate that diverse epigenetic mechanisms affect allele-specific gene expression in the mammalian brain.
Presentations that will be given by SFARI Investigators at Neuroscience 2016 in San Diego (November 12-16) are highlighted.
Single-nucleotide polymorphism genotyping and whole-exome and whole-genome sequencing studies have been key for the identification of genetic loci and mutations underlying autism spectrum disorder (ASD) susceptibility. Although none of the risk genes identified so far contribute to more than 1 percent of ASD cases, overall the search for ASD treatments can profoundly benefit from the study of rare and syndromic forms of ASDs.
Albert Basson and his colleagues at King’s College London plan to study the function of the CHD8 gene in brain development. CHD8, which encodes a protein that changes the structure of chromatin, has emerged as one of the most significant autism-associated genes. In vitro studies — studies conducted in an external environment — have suggested that CHD8 might function as a regulator of the developmentally important WNT signalling pathway, but whether this activity is relevant to CHD8 function during brain development is not known.