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
Tag: whole-exome sequencing
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.
Genetic variants linked to autism influence social skills in people without the condition, supporting the notion that autism lies along a continuum of typical traits.
Taking a close look at people who have a mutation in a known autism gene may reveal why these people often have vastly different characteristics.
Brian O’Roak has helped to steer some of the largest, most complex studies of autism genetics to date.