Largest Genomic Study of Latin American Cohorts Confirms Universal Genetic Foundation for Autism Risk

Major genomic study of 15,000 Latin American individuals confirms autism's genetic architecture is universal, reducing disparities in genetic testing.

By: AXL Media

Published: Mar 30, 2026, 10:32 AM EDT

Source: Information for this report was sourced from Mount Sinai Health System

Bridging the Ancestral Gap in Genomic Research

For over a decade, the majority of genomic research into neurodevelopmental disorders has relied on cohorts of European descent, leading to significant gaps in clinical genetic testing for non-European populations. This lack of diversity has often resulted in inconclusive results for individuals of mixed or non-white heritage. To address this, a research team co-led by Mount Sinai conducted one of the most extensive genomic studies of Latin American individuals to date. The findings, published in Nature Medicine, provide robust evidence that the rare genetic variants conferring high risk for autism do not vary significantly between different human ancestries.

The Genetic Architecture of a Diverse Population

The study utilized exome and genome sequencing data from 15,000 individuals across North, Central, and South America, including approximately 4,700 patients diagnosed with autism. Latin American populations are particularly valuable for this research because they represent the world’s largest recently mixed-ancestry group, containing a rich genetic tapestry of Indigenous American, West African, and European origins. By examining over 18,000 genes for "deleterious coding variants"—genetic changes that directly impact protein function—the researchers were able to refine gene-disease associations that have implications for global health.

Consistency Across Conserved Genes

The research identified 35 specific genes significantly associated with autism within the Latin American cohort. Critically, these genes showed extensive overlap with those previously identified in studies focused on European populations. Most of these variants were found in "highly conserved" genes—segments of DNA that have remained largely unchanged throughout evolutionary history. Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center, noted that this overlap suggests the underlying biology of autism is universal, reinforcing the theory that the condition’s primary drivers are common to all humans regardless of geographic origin.