WP1 | Autism genetics

Genetic methods and research outlined in WP1 build on a decade of international collaboration that identified genetic variations (common and rare) related to autism. However, these associations are usually estimated by collapsing men and women into a single group, or using male samples only, and primarily considering medical diagnosis and not person specific signs and indicators. The key current challenge lies in identifying if these variants act in a sex specific manner, and if they do whether this is mediated by: (1) differences in gene action/expression in specific neurons during development; (2) specific differences in hormonal or immune mediation of genetic effects; or (3) differences in social, educational and family recognition of signs and symptoms of autism, which would result in men and women of a similar genetic predisposition differing in their diagnostic prevalence. In this work package we move from gene identification to gene mechanism. We move from merely relating genetic variants of monolithic medical outcomes to understanding the psycho-bio-social mechanism by which genetic variants, sex, and hopefully gender, relate to autism.