Data-driven research has taken the number of genes implicated in the causes of autism to 61.
Researchers have isolated 18 new genes believed to increase risk for Autism Spectrum Disorder (ASD), a finding that may pave the way for earlier diagnosis and possible future drug treatments for the disorder.
The study, published this week in Nature Neuroscience, used a technique called whole genome sequencing (WGS) to map the genomes of 5193 people with ASD.
WGS goes beyond traditional analyses that look at the roughly 1% of DNA that makes up our genes to take in the remaining “noncoding” or “junk” DNA once thought to have little biological function.
The study, led by Ryan Yuen of the Hospital for Sick Children in Toronto, Canada, used a cloud-based “big data” approach to link genetic variations with participants’ clinical data.
Researchers identified 18 genes that increased susceptibility to ASD, noting people with mutations in those genes had reduced “adaptive functioning”, including the ability to communicate and socialise.
“Detection of the mutation would lead to prioritisation of these individuals for comprehensive clinical assessment and referral for earlier intervention and could end long-sought questions of causation,” the authors write.
Read the full article in Cosmos magazine here