KNOXVILLE, Tenn. (WATE) — A team of researchers led by Oak Ridge National Laboratory scientists have found a genetic marker that can help change how autism is understood.

ORNL said the team, “discovered genetic mutations that underlie autism using a new approach that could lead to better diagnostics and drug therapies,” in a news release Wednesday.

Computational biologists Garvin and David Kainer led the team in trying to find the causative genes for autism.

“The picture we have of autism right now is kind of blurry,” Garvin said. “What we are trying to say with this study is that there are some important puzzle pieces that we’ve been leaving out and if we bring those in, it is really going to bring it into sharper focus.”

Previous research cited by the team suggests that Autism Spectrum Disorder estimated 80% of autism is inherited, but scientists have yet to identify what genes were behind that. Currently, the CDC says that genetics, biology and environment are important factors of ASD.

“It’s addressing an issue that has existed for this condition and many others,” Garvin said. “We know Autism has a big genetics component but we have not really been able to find the genes or the mutations to explain it.”

Researchers were able to look at the parent-child genotypes of Autism Spectrum Disorder (ASD) families to demonstrate an enrichment in ASD-risk genes, according to the research article. The team was able to identify genetic mutations, called structural variants, in the ACMSD gene.

The ACMSD gene mutation that the scientists found is just one of many different genes that contribute to the heredity of Autism.

“So the gene itself is one of many genes we have identified in the study as potentially being involved in the spectrum of Autism,” Kainer said. “The thing about the spectrum is that it’s constructed from so many genetic factors, and anyone on that spectrum may have any combination of the genes and mutations that we think are involved.”

There have been many studies on Autism prior which were all taken into account for this particular study, however, the ORNL group went about this one a little differently.

“We explicitly went down the path of using data that we would normally leave out,” Kainer said. “We considered that it has been very hard to find an accurate association between the genes and Autism.”

The research article details that this gene had a significant association with a non-verbal ASD phenotype, drawing a line between the genetic marker to the observable characteristic.

Read the full research article below.

“We’ve established a workflow for using this often-ignored data that can be applied not only to autism, but also to other disorders,” said ORNL’s David Kainer. 

The research team was lead by Oak Ridge National Lab’s Michael Garvin and David Kainer, and included Alan Temepleton, Erica Prates, Daniel Jacobson, Euan Allan and Sharlee Climer. Prates and Jacobson are also associated with ORNL.