https://www.nhregister.com/news/article/Yale-University-scientists-find-genetic-link-to-11548763.php
Yale University scientists find genetic link to autism (video)
Jim Shelton, Register Staff
NEW HAVEN -- Yale University scientists say they've found a route to understanding the cause of autism.
In a paper published Wednesday in the journal Nature, Yale psychiatry and genetics professor Matthew State and a team of researchers identified a trio of key genetic mutations found in autism. The discovery helps pinpoint the processes involved in the disorder and eventually may lead to the development of a treatment.
"It's like a light has been turned on," said Dr. Stephan Sanders, a pediatrician and first author of the Yale paper. "We know now that we just have to continue doing more of this. It's wonderful, actually."
A recent report by the Centers for Disease Control and Prevention found that one in 88 children have autism or a related condition. The American Academy of Pediatrics suggests that parents have their children screened for autism at ages 18 months and two years.
The Yale study analyzed genetic data from 238 families, each of which had one child with autism. The Simons Foundation Autism Research Initiative collected the genetic samples and funded the research.
Essentially, scientists were able to identify specific genes related to autism. In doing so, they can learn how autism works in a developing brain and determine what causes the disorder.
Researchers believe there are as many as 1,000 genes involved in autism.
"Our technique will tend to find the most interesting ones," Sanders explained. "We're hoping we will find there are a small number of processes in the brain that cause autism."
Sara Reed, executive director of the Autism Society of Connecticut, said it is "exciting" to see progress being made in research, but noted that families dealing with autism have immediate concerns about support and care that also have to be addressed.
"It's clearly a very complex disorder," Reed said. "The more we can find out about it, the better."
Using advanced technology at the Yale Center for Genome Analysis, the Yale team identified mutations in genes that regulate crucial functions such as how nerve cells fire and which genes are turned on or off.
"What we want to do is find enough bits of the jigsaw to know what this genetic picture looks like," Sanders said.
This new information is particularly significant, he added, because it will accelerate the pace of autism research.
"For 50 years there had been very little progress. We hadn't really gotten anywhere," Sanders said. "To go from that to seeing this road map, it's amazing."
The Yale group worked with other researchers at Pittsburgh University, Carnegie Mellon University and UCLA for the study.
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