Researchers at Ben-Gurion University in the Negev have made a significant breakthrough in a unique study to better understand autism, discovering a particular evolutionary signature in autism genes. The breakthrough brings doctors one step closer to understanding the genetic mechanism for the disorder and being able to diagnose it prior to birth.

Dr. Idan Menashe and his colleagues, Erez Tsur and Prof. Michael Friger, studied over 650 genetic variations out of the 1,000 genes linked to autism, and found characteristics that differentiate them from other genes in the human genome.

“If we find the remaining genes out of the thousand, we will not only be able to understand autism better, but also be able to conduct a genetic test before pregnancy even, and perhaps, in the future, also find a cure to help fix the genetic distortions to prevent autism,” said Menashe.

“We can certainly estimate that within five years it will be possible to conduct this type of genetic test,” he said.

The unique characteristics of genes associated with autism spectrum disorder, among others, are unusual genomic length, longer than other genes manifested in the brain; and a genetic similarity to diseases such as Alzheimer’s disease and schizophrenia. Additionally, researchers found that ASD-related genes carry a signature typical of the genetic process known as negative evolutionary selection. This process is responsible for purging deleterious impacts on the genome, through a gradual process that spans generations.

“These findings expand our understanding in relation to the genetic mechanisms involved in autism, and provide new tools for the discovery of additional genes linked to the disorder,” Menashe said.