33 Genes Linked to Autism by CMU, Pitt Study

Oct 29, 2014

An international research team led by professors from the University of Pittsburgh and Carnegie Mellon University has identified 33 genes that contribute to the risk of autism.

The team also uncovered 70 genes that are “likely” linked to autism risk, and have estimated that more than 1,000 have yet to be identified. According to the researchers, the discovery, which is the largest to date, enhances the scientific community’s understanding of how a brain with autism spectrum disorder works.

“We can start to cluster those genes and look at how they work together, and what pathways and biological functions are involved,” said Kathryn Roeder, professor of statistics and computational biology at CMU. “This way, we can hope to make way for novel therapies.”

The findings, published Wednesday in Nature, are a result of examining more than 14,000 DNA samples from affected children, their parents and unrelated individuals.

In 2010 the Centers for Disease Control and Prevention estimated that one in 68 children aged 8-years was living with the disorder.  This rate has steadily increased since 2000.

Roeder said the study could be beneficial to parents of children with autism, who aren’t able to easily access scientific data about the disease.

“[Science and health experts] can help train autistic individuals to function in society, but we don’t have any drug therapies,” Roeder said. “It’s a great hope to those parents if they could understand what was going wrong. Then there might be a way of fixing things before it got that way.”

The Chromo Helicase DNA-binding (CHD) gene, one of the 33 genes identified by researchers, plays a substantial role in the fetal development of the brain, according to Roeder.

It’s genes like CHD that reveal the most information about the risk of autism.

“Many of these genes affect the transcription of other genes. They are kind of like gene bosses, they are regulators,” Roeder said. “That’s why they have such a downstream impact. If the regulator gene goes wrong, then many genes go wrong.”

The goal moving forward is to identify more genes and study how the genes work together to impact the brain.

“It’s when you look at the function of those genes. What do they do? What role do they play?” Roeder asked. “That’s why you need more than nine [genes] to find the commonalities and the way in which they work together and what they work on.”