Researchers Identify a Genetic Cause of Intellectual Disability Affecting Tens of Thousands
Mount Sinai Health SystemResearchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue of Nature Medicine [DOI: 10.1038/s41591-024-03085-5], was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, currently based at the University of Cambridge, UK. The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders.