April 2nd is Autism Awareness Day, and ahead of the 2026 annual recognition, a group of scientists has been praised for a breakthrough in the field of genetics and autism risk.
Over the past decade, researchers have been able to identify a series of rare genetic variants associated with an increased risk of autism and other neurodevelopmental disorders. Since most of them have been found to be of European ancestry, there have been calls to expand the field to ancestors from other parts of the world.
In response to these concerns, the Genomics of Autism in Latin American Ancestries (GALA) Consortium produced the largest sequencing study of autism from a Latin American demographic.
Looking at the 35 most important genes associated with autism, the researchers noted that there was “high overlap with findings from European cohorts, with highly restricted genes showing similar symptoms in all populations.”
The study looked at 35 important genes associated with autism (Maskot/Getty)
Published in Nature Medicine in a paper entitled “Deleterious coding variation associated with autism shared across generations”, the team analyzed genetic sequence data from more than 15,000 Latin Americans who were spread across North, Central and South America. Of these, it is said that about 4,700 of them have been diagnosed with autism.
The Latin American population is considered the largest of the newly mixed race groups, with ancestry that includes European, Native American, and West African backgrounds. It is thought that these different types of genes will allow scientists to improve genetic relationships and extend them to other populations.
As reported by Genetic Engineering & Biotechnology News, more than 18,000 genetic variants were studied for evolutionary and other disruptive coding variants. Based on previous research, rare and disruptive genetic variants that remain the same across species and populations over time were disproportionately found in those with autism.
35 genes were specifically associated with autism in the Latin American population, and these were associated with the same ones in those of European descent.
It supports previous research that rare and common genetic risk factors are shared in different populations (Richard Drury/Getty)
Commenting on 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 show that the genetic basis of autism is shared across generations.
“This suggests that the biology underlying autism is universal and underscores the importance of ensuring that diversity is represented in genetic research.”
Buxbaum and co. it also looks at the evolutionary conservation of genes, which is an important way to advance the field of genetic analysis of neurodevelopmental diseases. Considering these metrics are mostly derived from European ancestry databases, it is suggested that they may overestimate conservation due to the diversity of European populations.
Continued sequencing of different populations hopes to improve conservation strategies for less conserved genes.
Overall, the study is consistent with growing evidence that common and rare genetic risk factors for complex disorders such as autism are shared across different populations.
Buxbaum concluded: “These findings provide a road map for improving genetic analysis across ancestral groups.
“Expanding genomic research in underrepresented populations is critical to reducing health disparities and advancing appropriate medicine for autism and related conditions in all populations.”
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