Criss-crossing the globe on a quest for unusual DNA, researchers have discovered a rare mutation that promises insights into both epilepsy and autism — and points to a treatment.
Spectrum: Autism Research News
Mutations in genes that seemingly don’t affect the corresponding proteins may still boost autism risk.
Watch the complete replay of Brian O’Roak discussing the accelerating pace of autism genetics and new methods for identifying and validating autism risk genes.
Brian O’Roak has helped to steer some of the largest, most complex studies of autism genetics to date.
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.