The first analysis of the African autism cohort reveals millions of new variants

Genome sequences from one of the first research cohorts of African children with autism and their families have revealed more than 4 million novel genetic variants, some of which occur in genes not previously linked to the condition.

Research on the genetics of autism — like genetics research more broadly — has overwhelmingly focused on people of European ancestry.

What researchers learn from studying those populations can apply to all autistic people, but it creates a “narrow lens” for understanding the condition, says lead investigator Maria Chahrour, assistant professor of genetics and neuroscience at the University of Texas Southwestern in Dallas.

 “As a genetics community, we recognize this massive need for diversity in genomic studies,” Chahrour says.

In 2015, Chahrour began recruiting participants from Dallas’ diverse populations to study autism genetics.

But some had concerns about the privacy of their genetic data, past racial injustices by researchers and medical providers, and stigma against autism in their communities, Chahrour says.

So Chahrour designed the new study in close partnership with a woman in the cohort and the Joy Autism Center in Addis Ababa, Ethiopia.

It’s good that researchers are adding new populations to genetic studies, says Stormy Chamberlain, associate professor of genetics and genome sciences at the University of Connecticut in Farmington, who was not involved in the work.

Efforts to create such cohorts include a recent whole-genome analysis of 426 people from 50 different ethnolinguistic groups in Africa, which found 3 million new genetic variants1.

Increasing the representation of African populations in genetic research could ultimately help more people obtain a genetic diagnosis for their autism, she says.