Researchers one step closer to earlier diagnosis of autism

Researchers have found a unique genetic basis found in autism genes that may lead to earlier diagnosis of the condition, a report has revealed.

The study, conducted by Ben-Gurion University of the Negev (BGU), examined the sequences of more than 650 genes associated with autism and found characteristics that distinguish them from other brain-specific genes and genes of other diseases.

The researchers believe that with this discovery they are one step closer to understanding the genetic basis of autism.

Dr Idan Menashe said: “We are now a step closer to understanding the genes associated with autism and understanding the biological process involved in the disease.

“This study gives us a tool to help identify additional autism genes using the genetic signature we found. From there, we hope to be able to diagnose autism earlier.”

They found that genomic length – the total amount of DNA contained within one copy of a single genome – is distinctly longer in autism-specific genes, when compared to similar genes related to diseases such as Alzheimer’s and schizophrenia.

However, when looking at why autism is so prevalent in this generation, the researchers found no evidence to suggest that “positive selection” was to blame.

Dr Menashe said: “While this kind of mechanism could explain the prevalence of autism in the human population, we found no indications of positive selection acting on autism genes.

“Thus, while autism susceptibility mutations are in the human genome, they only present as an autism disorder when combined with other genetic, non-genetic or environmental factors.”