Brian O’Roak has helped to steer some of the largest, most complex studies of autism genetics to date.
Spectrum: Autism Research News
Scientists dish about the biggest challenges they face as they tackle tough questions about autism.
Two studies prioritize autism risk genes for further research and illuminate how different types of mutations may work together.
DNA sequences called enhancers — which boost the expression of genes from within or outside them — are enriched for genetic variants linked to autism, suggests a new study. The finding may help researchers understand how variants outside genes contribute to autism.
Rare inherited mutations may contribute to autism in roughly 10 percent of boys with the disorder, according to a study published 11 May in Nature Genetics. These genetic glitches are primarily passed down from unaffected mothers.
After eight years of prominence as an autism risk gene, a new analysis significantly brings down CNTNAP2’s importance in the disorder: According to the study, rare mutations in a single copy of the gene are unlikely to cause autism.
Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.
Small pieces of DNA within genes, dubbed ‘microexons,’ are abnormally regulated in people with autism, suggests a study of postmortem brains.