Well-Being Prevention & Cures

Largest study yet identifies over 200 genes strongly linked to autism

“The more we can advance therapeutics, based on the targets identified in these genetic findings, the more people we have the potential to help.”

Story at a glance


  • As of 2017, approximately 5.4 million U.S. adults have autism spectrum disorder.

  • Results of the large study may help drive future treatments for the condition. 

  • Researchers also hope findings will spur genetic testing to identify those at risk. 

An analysis of over 150,000 people, 20,000 of whom have autism, revealed over 250 genes that have strong links with the condition, marking the largest and most comprehensive study of its kind to date. Findings were published in the journal Nature Genetics

Findings open up the possibility for a precision medicine approach to autism, a personalized care process that is gaining popularity in other disease states where genetic mutations increase certain risks. 

“Some individuals with autism spectrum disorder carry functional mutations rarely observed in the general population,” researchers explained. To better understand genes disrupted by these variants, investigators assessed data from participants of the Autism Sequencing Consortium, the Simons Foundation Powering Autism Research initiative, and three other consortia. 

Authors hope the findings will help foster future insights on the molecular roots of brain development and neurodiversity, while enabling future research on the condition’s biology. 

Previous research has already revealed mutated genes contribute to autism. However, “in this unprecedented study, we were able to bring together multiple types of mutations in a wide array of samples to get a much richer sense of the genes and genetic architecture involved in autism and other neurodevelopmental conditions,” said co-author Joseph D. Buxbaum, of the Seaver Autism Center for Research and Treatment at Mount Sinai, in a statement.

Results might also yield potential targets for autism treatment. 


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In the United States, the Centers for Disease Control and Prevention (CDC) estimates that as of 2017 around 2.2 percent of adults currently live with autism spectrum disorder, or approximately 5.4 million individuals. 

Several analyses were carried out as part of the study, one of which revealed autism-related genes were more active in more mature neurons, while genes associated with developmental delay were more active in early neuronal development. An additional analysis showed genes strongly linked with autism were more likely to also be associated with genes that increase schizophrenia risk, researchers said, underscoring the shared genetic risk factors between autism and other psychiatric disorders. 

In addition to the large scale data collection employed in the study, investigators were also able to begin understanding where, when, and how certain genes express effects during neurodevelopment, added co-author Michael Talkowski, of the Center for Genomic Medicine at Massachusetts General Hospital.

Based on the findings, genetic testing is warranted, authors say, to identify those at risk and drive therapeutic development.

“The more we can advance therapeutics, based on the targets identified in these genetic findings, the more people we have the potential to help, which could have a significant impact in addressing autism and developmental delay worldwide,” said Buxbaum.