Archive by date | April 2012

Autism exomes arrive

Rational pharmacological treatment of autism spectrum disorders can only occur when the genes and the molecular pathways disrupted in this disease are well-understood. Today, three papers in Nature by Matthew State and colleagues, Evan Eichler and colleagues and Mark Daly and colleagues¬†report the largest exome sequencing efforts in autism to date, involving nearly 600 trios and 935 further cases with the disease. Altogether, the papers provide strong evidence for three new autism genes (CHD8, KATNAL2 and SCN2A) and support the idea that autism is an extremely heterogeneous disease, meaning that many genes can confer high-risk for the disease. Previously, scientists estimated that the number of high-risk autism genes was ~200. However, the new data suggests that there are likely ~1000 high-risk autism genes, which can and should be identified with further sequencing. ¬†  … Read more