AI accelerates gene identification for neurodevelopmental conditions

This new tool can reportedly help fully characterise the genetic landscape of neurodevelopmental disorders, which is key to making accurate molecular diagnosis, elucidating disease mechanisms, and developing targeted therapies. The study is detailed in the American Journal of Human Genetics.

In a statement, first and co-corresponding author Dr Ryan S. Dhindsa, assistant professor of pathology and immunology at Baylor College of Medicine, said: “Although researchers have made major strides identifying different genes associated with neurodevelopmental disorders, many patients with these conditions still do not receive a genetic diagnosis, indicating that there are many more genes waiting to be discovered.”

Typically, to discover new genes associated with a disease, researchers sequence the genomes of many individuals with the disorders and compare them to the genomes of people without the disorders.

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“We took a complementary approach,” said Dhindsa, who is also principal investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.