Aims: To identify rare and common genetic variants associated with autism.

Background: It is now well established that autism is partly genetic. To date about 100 ‘high confidence’ rare genetic variants have been associated with autism but these are only found in about 5% of autistic people. Very few common genetic variants have been confirmed as associated with autism and our work aims to discover more of both of these types of genetic variants.

Method: We use a range of methods, from whole genome sequencing of ‘multiplex’ families (where there are several autistic people in the same family) to Sanger sequencing (a particular method of sequencing DNA) of autistic people vs non-autistic people, to genome wide association studies (GWAS) of large populations (autistic or non-autistic). We are testing if there is a genetic overlap between autism and mathematical talent (funded by the Templeton World Charity Foundation as part of the IMAGE Study) and for common genetic variants underlying autism and autistic traits, as part of the Spectrum 10K  study (funded by the Wellcome Trust).

Results: These will appear on our website.

Importance: Genetic research is important to understand the fundamental causes of autism, and potentially to aid early diagnosis with a view to earlier intervention. Genetic research can also aid ‘stratification’ of autism into subgroups, to improve our understanding of why autistic people have such a diverse range of outcomes. Finally, genetic predisposition interacts with environment and the SPECTRUM 10K Study is studying these interactions to understand why different autistic people have different outcomes, and to understand how we can improve autistic people’s wellbeing

Relevance: To basic science, but also with translational potential to identify who needs what kind of support.

Funding: The Templeton World Charitable Foundation (TWCF); the Autism Research Trust (ART); The Wellcome Trust