A new analysis of the genes underlying neurodevelopmental abnormalities has identified more than 70 genes that are very strongly connected with autism and more than 250 genes that are strongly associated with the disease. More than 150,000 people took part in the study, of whom 20,000 have been diagnosed with autism, making it the largest study of its kind to date.

The results give us the most complete look yet at the different ways genes can be different in autism and other neurodevelopmental conditions. The new information sheds light on the molecular causes of brain development and neurodiversity. It also opens up new ways to study the biology of autism in the future.

Researchers from the Autism Sequencing Consortium, the Simons Foundation’s Powering Autism Research initiative, the Lundbeck Foundation’s Initiative for Integrative Psychiatric Research, the Population-Based Autism Genetics and Environmental Study, and the Broad Institute’s Center for Common Disease Genomics worked together to reach these conclusions. The research is the result of investments made by these consortia several years ago to carry out extensive genetic analysis for neurodevelopmental diseases and exchange these databases on autism.

The new research is published in Nature Genetics along with three related studies that use some of the same data to learn more about how autism is caused by genes.

“We know that many genes, when mutated, contribute to autism and 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,” says co-senior author Joseph D. Buxbaum, adding, “this is significant in that we now have more insights as to the biology of the brain changes that underlie autism and more potential targets for treatment.”

In an analysis led by co-first author Minshi Peng, the team looked at the expression, or activity levels, of the genes they uncovered in developing human neurons. They found that genes linked to developmental delay are active in early neuronal development, while autism-related genes are active in mature neurons. In an examination of more than 20,000 samples from people with schizophrenia, researchers found that autism-linked genes were also linked to schizophrenia-risk genes.

These results suggest that autism and other neurological and mental illnesses share genetic risk factors, according to Dr. Buxbaum.

“Our discoveries were enabled not only by very large-scale, rich data collections in autism research and population genetic studies,” adds co-senior author Michael Talkowski, “but also by newly developed analysis methods, allowing us to explore the genetic roots of neurodevelopmental variability in new ways. In addition to the massive gene discovery efforts in the field, we are beginning to make inroads into understanding where, when, and how these genes exert their effects during neurodevelopment.”

Based on the findings of the study, Dr. Buxbaum stated that a precision medicine approach to autism might assist patients, as treatments that are effective for persons carrying a mutation in one gene may not be effective for individuals carrying a mutation in a different gene.

Dr. Buxbaum summarized the findings by saying, “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 the development of therapeutics. 

“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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