Story at a glance

  • A team of researchers identified the genes using samples from more than 35,000 participants.
  • ASD is a developmental disorder that affects communication and behavior.
  • The Centers for Disease Control and Prevention reports 1 in 59 children have ASD.

Researchers have identified more than 100 genes associated with autism in the largest genetic-sequencing study to date that could help shed light on the causes of the condition. 

In a study published Thursday in the peer-reviewed journal Cell, a team of researchers identified 102 genes associated with the risk of autism spectrum disorder (ASD), using samples from more than 35,000 participants, 12,000 of which had autism. They were able to study genes that were inherited as well as those that occurred spontaneously when the egg or sperm is formed. 

The study shows progress toward teasing apart genes associated with ASD from those associated with intellectual disability and developmental delay, conditions that often overlap.

Of the 102 genes associated with ASD risk, 49 were also associated with other developmental delays.

“With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches,” Joseph Buxbaum, the director of the Seaver Autism Center for Research and Treatment at Mount Sinai, said in a statement.

ASD is a developmental disorder that affects communication and behavior, and although autism can be diagnosed at any age, it is said to be a developmental disorder because symptoms generally appear in the first two years of life. 

The Centers for Disease Control and Prevention estimates that about 1 in 59 children has been identified with ASD. 

Researchers said the results were encouraging as genetic testing could increase the likelihood of figuring out the cause of some children’s autism. 

“Through our genetic analyses, we discovered that it’s not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism,” Buxbaum said. “We now have specific, powerful tools that help us understand those underpinnings, and new drugs will be developed based on our newfound understanding of the molecular bases of autism.”

Published on Jan 23, 2020