Genetic abnormalities identified as possible cause of autism

A new study conducted by 15 institutions in three countries reveal that certain genetic abnormalities could lead to autism and other neurodevelopmental disorders. Balanced chromosomal abnormalities (BCAs) occur when genetic material within a chromosome, or between chromosomes are exchanged, and cause rearrangements in the genetic code. Due to these rearrangements, BCAs cause many disruptions that contribute to autism and other disorders. The researchers discovered that disruptions in various distinct sites in the genetic code and in several different groups of genes result in autism. This study is part of the ongoing Developmental Genome Anatomy Project (DGAP), which aims to identify genes critical in human development. “BCAs provide a unique opportunity to pinpoint a gene and validate it in a disorder,” Cynthia Morton, principal investigator of DGAP, said. “These discoveries can illuminate biological pathways that may be a window to a new therapy.”