New research is uncovering dozens of genes associated with autism and helping to explain a broader swath of cases across the spectrum.

While science has previously linked several genes to autism, they only account for about 20% of cases of the developmental disorder. And, many known genes are tied to more profound forms of autism that present with co-occurring conditions like epilepsy and intellectual disability.

But in a new study published this month in the journal Nature Genetics, researchers found 60 genes related to autism, including five with a more moderate impact on cognition and other characteristics of the condition. The study is based on data from nearly 43,000 people with autism.

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Notably, the variants in these five genes were often inherited from a child’s parents — even though the majority of the parents did not have autism or cognitive differences — while most previously known autism genes are considered de novo, or spontaneous.

“Overall, the genes we found may represent a different class of genes that are more directly associated with the core symptoms of ASD than previously discovered genes,” said Dr. Wendy Chung of Columbia University Medical Center, a coauthor of the study. “We need to do more detailed studies including more individuals who carry these genes to understand how each gene contributes to the features of autism, but we think these genes will help us unravel the biological underpinnings that lead to most cases of autism.”

The findings were published alongside the results of three other studies in Nature Genetics assessing similar large sets of genetic data.

One of the other studies — which is the largest ever of its kind — examined information collected from 150,000 people including 20,000 with autism. It found over 70 genes “very strongly associated with autism” and another 250 with “strong links” to the condition.

“A critical takeaway is that autism has many genetic mutations driving it and thus genetic testing is warranted, not just for the benefit of families and individuals at risk for autism spectrum disorder, but also to drive development of therapeutics,” said Joseph D. Buxbaum, director of the Seaver Autism Center for Research and Treatment at Mount Sinai and a coauthor of the study looking at 150,000 people. “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.”

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