Overlooked DNA regions surrounding ‘microexons’ may hold missing pieces of autism’s genetic puzzle

New research from scientists at the University of Toronto, the Sloan Kettering Institute, King's College London (KCL) and the Francis Crick Institute is helping piece together the missing genetics of autism spectrum disorder (ASD).

In a study published today in Nature, researchers identified hundreds of new microexons—short gene segments that appear to play a key role in ASD and other neurological conditions—and developed a machine learning approach to predict the impact of ASD-associated genetic variants on the regulation of these segments.

“Autism is characterized by multifactorial genetics,” says Benjamin Blencowe, the study’s co-senior author and a professor at U of T’s Donnelly Centre for Cellular and Biomolecular Research and in the department of molecular genetics at the Temerty Faculty of Medicine.

Sign up for Blog Updates