AI Speeds Gene Discovery in Neurodevelopmental Disorders

Researchers have developed an artificial intelligence (AI) approach to accelerate the identification of genes contributing to neurodevelopmental conditions like autism, epilepsy, and developmental delay. The AI tool analyzes patterns in gene expression from the developing human brain, enhancing predictive models by incorporating biological features such as mutation intolerance and interactions with known disease genes. Top-ranked genes showed significantly higher enrichment for neurodevelopmental disorder risk, potentially accelerating gene discovery and patient diagnoses. The study, published in the American Journal of Human Genetics, involved researchers from Baylor College of Medicine, Texas Children's Hospital, AstraZeneca, and the University of Melbourne. Grants from NIH NINDS, NIH, Norn Group, Hevolution Foundation, and Rosenkranz Foundation supported this work.