Mount Sinai Genomic Analysis of 15,000 Latin American Individuals Confirms Universal Genetic Architecture of Autism Across Diverse Ancestries

Mount Sinai researchers confirm that autism risk genes are consistent across different ancestries, using one of the largest Latin American genomic datasets.

By: AXL Media

Published: Mar 30, 2026, 6:31 AM EDT

Source: Information for this report was sourced from The Mount Sinai Hospital / Mount Sinai School of Medicine

Addressing the European Bias in Genomic Research

Over the last decade, the field of neurogenetics has identified numerous rare variants that contribute to the risk of autism, yet the vast majority of this data has been derived from individuals of European descent. This historical imbalance has led to significant health disparities, including higher rates of inconclusive genetic test results for non-European patients who lack adequate reference data. To bridge this gap, a research team led by Mount Sinai conducted a massive genomic study involving over 15,000 Latin American individuals from across North, Central, and South America. The findings, published in Nature Medicine, provide the most comprehensive evidence yet that the genetic underpinnings of autism remain stable across diverse global populations.

The Power of Latin American Genetic Diversity

Latin American populations represent a unique and complex genetic tapestry, often combining Indigenous American, West African, and European heritage. This high degree of ancestral admixture provides a powerful lens through which scientists can refine gene-disease associations. By analyzing the exome and genome sequencing data of approximately 4,700 individuals diagnosed with autism, the researchers examined more than 18,000 genes for rare, deleterious coding variants. These specific genetic changes are of particular interest to clinicians because they often have immediate implications for diagnosis, specialized treatment plans, and long-term family counseling.

Identifying a Universal Biological Roadmap

The study successfully identified 35 genes significantly associated with autism within the Latin American cohort. Critically, these genes showed extensive overlap with those previously cataloged in large-scale studies of European populations. According to Dr. Joseph D. Buxbaum, Director of the Seaver Autism Center for Research and Treatment at Mount Sinai, these results indicate that the core biology underlying autism is universal. The research also provided additional support for several "emerging" risk genes, reinforcing their status as high-priority targets for future therapeutic development and clinical screening.