A new study reveals an important connection between dozens of genes that may contribute to autism, a major step toward understanding how brain development goes awry in some individuals with the disorder.

The research shows that CHD8, a gene that is strongly linked to autism, acts as a master regulator in the developing human brain and controls the expression of many other genes. Many of the genes it targets have also been implicated in the disorder, the researchers found....

“Strong genetic evidence has identified a set of regulatory genes as being important for autism risk. But it has been difficult to gain insight into the biological mechanisms that might be perturbed because we couldn’t functionally connect these genes with each other. Now, we can,” said Noonan, a member of the Kavli Institute for Neuroscience, and senior author of the study.

Recent studies have identified several dozen genes potentially associated with autism. In the past three years, the gene CHD8 has emerged as one of the strongest candidates. Individuals with a loss-of-function mutation in this gene, which inactivates the corresponding protein, are very likely to have an autism diagnosis.