In recent years scientists have identified hundreds of different genes associated with autism, a burst of discovery that has prompted a new and perplexing question: how can so many different genes produce the same, or very similar outcomes in the brain?
A new Yale-led study offers fresh insight, revealing how the diverse range of genes linked to neurodevelopmental disorders like autism disrupt the brain in similar ways - a finding that could ultimately open the door to new treatments.
The researchers found that these genes "converge" on a shared set of biological pathways in the brain, triggering similar downstream effects as brain cells mature.
The study, published in the journal Nature Neuroscience, was co-led by author Kristen Brennand, the Elizabeth Mears and House Jameson Professor of Psychiatry at Yale School of Medicine (YSM), and Ellen Hoffman, an associate professor in the Yale Child Study Center.
"It's been really challenging to put our finger on what causes autism," said Brennand. "This research gives us a new target to study: Not the genes themselves but the way they converge along the same neural pathways."
While the genetics of autism have been studied for two decades, the level of discovery is accelerating. In 2020, one research paper alone identified 102 genes linked to autism. That number, Brennand said, is expected to jump to 250 genes as researchers increasingly gain access to enough DNA from people with autism to identify more genes linked to the disorder.
