Autism Spectrum Conditions (henceforth autism) affect the ability to socialize, communicate, and adjust to change. Autism is heritable, but its genetic architecture is poorly understood. Although it has been conceptualized as a disease or disorder, it has a striking connection to mathematical talent: gifted mathematicians have a higher than average incidence of autistic traits and have a disproportionate rate of autism. This association between autism and mathematical talent is a neglected area of research. The hyper-systemizing theory proposes that autism and mathematical talent both share an affinity for detecting patterns in information (“systemizing”). Autism and strong systemizing talent may be genetically linked because autism occurs at least twice as often in geographical regions enriched for parents working in STEM (science, technology, engineering, and math).

This project addresses the question: what is common and distinct about the genetics and epigenetics of autism and extreme mathematical ability? The aims are to accelerate:

1. Autism genetics and epigenetics by adopting a novel approach: whole genome sequencing (WGS) and epigenetic sequencing of 20 highly enriched, maximally informative families (i.e., those who have 3 or more individuals with autism in the nuclear family).

2. The study of the genetic and epigenetic basis of math by adopting another novel approach, namely WGS and epigenetic sequencing of 50 extremely talented mathematicians (international math prizewinners).

We hypothesize that both autism and exceptional mathematical talent will each have unique genetic and epigenetic signatures. Moreover, there will be shared genetic and epigenetic signatures that are not seen in the general population. We plan to produce scientific articles, popular science articles, data access to the wider scientific community, data-analysis pipelines, and oral presentations to both specialist and lay audiences. We expect this research will deliver new insights into a uniquely human aspect of genius (exceptional mathematical talent) and its link with a uniquely human disability (autism), and identify new biomarkers of each.