Autism: the genetic fingerprint is confirmed

If the diagnosis remains difficult, research to identify the causes of autism continues to progress. Published this Thursday, August 18 in the magazine Nature Genetics, a new study announces the discovery of 70 genes strongly associated with the disease. (source 1)

This is the largest study to date. More than 150,000 people participated, including 20,000 diagnosed with autism spectrum disorder.

American scientists have examined the activity levels of genes present in developing human neurons. Its objective: to understand the functioning of “the genes and the genetic architecture involved in autism and other neurodevelopmental disorders”.

Genetic risk factors

The researchers found that genes related primarily to developmental delay tend to be active in the earliest stages of neuronal development, while genes related to autism tend to play a role in more mature neurons.

Furthermore, analyzing data from people with schizophrenia, they noted that genes strongly associated with autism were also more likely to be associated with genes that increase risk of schizophrenia.

“These analyzes indicate that there are shared genetic risk factors between autism and other neurological and psychiatric disorders,” study co-author Dr. Joseph Buxbaum said in a news release. (source 2)

better support

Based on these results, the research team hopes that people with autism will benefit from a adapted treatment. This is because treatments that work in people with a mutation in one gene may not work in people with a mutation in a different gene.

“A key point to remember is that autism is driven by many genetic mutations and therefore genetic testing is warranted, not only for the benefit of families and individuals at risk for autism spectrum disorders, but also for stimulate the development of therapies,” emphasizes Dr. Buxbaum.
“The more we can advance therapies, based on the targets identified in these genetic results, the more people we have an opportunity to help, which could have a significant impact in the fight against autism and developmental delay in the entire world.”

Autism spectrum disorders (ASD) result fromneurodevelopmental abnormalities. They are characterized by lack of social integration and communication. According to INSERM, approximately 700,000 peoplethey are worried in France. (source 3)

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