The goal of Evan Eichler’s project is to define high-impact genes and mutations associated with sporadic autism. Using molecular inversion probe (MIP) technology, Eichler and his colleagues plan to resequence the protein-coding sequence of 200 autism candidate genes in 8,588 participants who have autism or intellectual disabilities, from eight diagnostic centers worldwide.

The researchers aim to focus on the discovery of spontaneous, or de novo, loss-of-function mutations, including smaller copy number variants and recurrent protein-altering missense mutations.

Deeper characterization of autism genes may expand the number of individuals associated with each gene and provide information on how to prioritize variation that might emerge from future genome-sequencing projects. Studying these patients will also provide clues as to whether subtypes of autism may be distinguished both at the genetic and clinical levels.