“Landmark” autism study identifies potential causes of condition

The “largest-ever” gene-sequencing study has identified more than 100 genes associated with autism.

Announcing the discovery, researchers from the Seaver Autism Center for Research say the finding could help better understand what causes the condition.

According to the paper, each of the identified genes has been associated with intellectual disability and developmental delay – symptoms common in someone on the autism spectrum.

The scientists used an enhanced analytic framework to integrate both “rare, inherited genetic mutations” and those “occurring spontaneously when the egg or sperm are formed (de novo mutations)” to examine the genes of more than 35,000 participants.

In total, 102 genes were associated with an increased risk of autism.

Commenting on the research, author Joseph D. Buxbaum said: “This is a landmark study, both for its size and for the large international collaborative effort it required. With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches.

“Through our genetic analyses, we discovered that it’s not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism. It’s critically important that families of children with and without autism participate in genetic studies because genetic discoveries are the primary means to understanding the molecular, cellular, and systems-level underpinnings of autism.”

Using this newly discovered information, he said, new drugs and treatments can be developed to address the causes of underpinning conditions such as autism.

According to the latest statistics, around 700,000 people live with autism in the UK, affecting around one in every 100 people.

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