The American Society of Human Genetics (Ashg) conducted the largest study on autism spectrum disorders. The researchers sequenced and analyzed nearly 38,000 genetic samples, which led to the discovery of 102 genes related to the disease. The last study in 2015 had identified only 65. The researchers presented data at the annual Ashg 2018 meeting in San Diego, California.

To perform the study, the scientists analyzed 37,269 samples, almost twice as many as previous studies. In this way they managed to analyze a greater number of genes and variants. Furthermore, they incorporated the latest advances in analytical methodology. All these elements together have allowed an unprecedented sequencing of the exome.

The exome is the portion of the genome that produces proteins. The genes contained here give shape to all the characteristics of our organism. When they do not work as they should, they cause abnormal manifestations such as autism. That's why the sequencing of this area is so relevant and has given exceptional results.

Researchers used complex statistical methods to identify 102 genes linked to autism, with a 10% error rate. Of these, 52 are related to autism spectrum disorders, 47 autism proper and intellectual disabilities.

The discovery will allow to observe not only the genesis of autism, but also that of other neurodevelopmental disorders. The goal is to better understand which genes are causing the wide range of disorders in the spectrum. In this way it will be possible to identify the mechanisms behind the heredity of autism.

Source: repubblica.it