Scientists make breakthrough discovery of genetics that increase the risk of autism
April 2 is Autism Awareness Day, and ahead of 2026's annual recognition, a group of scientists has been praised for making a breakthrough discovery in the field of genetics and the risk of autism.
Over the past decade, researchers have been able to identify a series of rare genetic variants that are linked to an increased risk of autism and other neurodevelopmental disorders. As most of these have been found in those of European ancestry, there have been calls to widen the field to ancestries from other parts of the world.
Taking these complaints into account, the Genomics of Autism in Latin American Ancestries (GALA) Consortium has presented the largest sequencing study of autism from people in the Latin American demographic.
Looking at 35 genome-wide significant autism-associated genes, researchers noted there was "substantial overlap with findings from European cohorts, and highly constrained genes showing consistent signal across populations."
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Published in Nature Medicine inside a paper titled "Deleterious coding variation associated with autism is shared across ancestries", the team analyzed exome and genome sequencing data from over 15,000 Latin Americans that were spread across North, Central, and South America. Of these, it's said around 4,700 of them had been diagnosed with autism.
The Latin American population is considered the biggest of the recently mixed-ancestry groups, with heritages including European origins, Indigenous American, and West African. It's thought that this diverse genetic spread will allow scientists to refine gene-disease associations and be expanded out to other populations.
As noted by Genetic Engineering & Biotechnology News, more than 18,000 genes for enrichment of rate and deleterious coding variants were studied. Lining up with previous research, rare and deleterious variants in genes that remain similar across species and populations over an extended period were disproportionately found in those with autism.
35 genes were specifically associated with autism in the Latin American population, with these overlapping with similar ones in those of European ancestry.
Discussing the findings, senior study author Joseph D. Buxbaum, PhD, director of the Seaver Autism Center for Research and Treatment at Mount Sinai, said: "Our results indicate that the core genetic architecture of autism is shared across ancestries.
"This suggests that the biology underlying autism is universal and reinforces the importance of ensuring that diverse populations are represented in genetic research."
Buxbaum and co. also looked at the evolutionary conservation of genes, which is an important way of prioritizing in the field of clinical genetic analyses of neurodevelopmental disorders. Considering these metrics are largely derived from European-ancestry datasets, it's suggested that they may overestimate conservation due to diversity in European populations.
Continued sequencing of diverse populations hopes to improve conservation metrics in less conserved genes.
In general, the study aligns with increasing evidence that both rare and common genetic risk factors for complex disorders like autism are shared across diverse populations.
Buxbaum concluded: "These findings provide a road map for improving genetic diagnosis across ancestral groups.
"Expanding genomic research in underrepresented populations is essential to reducing health disparities and advancing precision medicine for autism and related conditions across all ancestral populations.”