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.
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.
“We realized the value of unexplored heritable information from others’ research,” said ORNL’s Michael Garvin.
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 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.