Autism spectrum disorders (ASD) are complex, heritable and highly heterogeneous neurodevelopmental conditions. Clinical symptoms often co-occur with other disorders and there is mounting evidence for a considerable genetic heterogeneity between ASD diagnostic subcategories. Our group investigates whether clusters of co-occurring ASD symptoms vary in their common genetic architecture and manifest as multiple, distinct, overarching genetic factors. We aim to disentangle autism heterogeneity, providing insight into ASD as a collection of similar disorders with varying symptom clusters, rather than a single phenotype. This research is funded by the Simons Foundation Autism Research Initiative (SFARI) and involves collaboration with the University of Bristol, the University of Cambridge and Aarhus University.
Example publication
Verhoef E., Grove J., Shapland CY, Demontis D, Burgess S, Rai D, Børglum AD & St Pourcain B (2021). Discordant associations of educational attainment with ASD and ADHD implicate a polygenic form of pleiotropy. Nature Communications volume 12, Article number: 6534. https://doi.org/10.1038/s41467-021-26755-1
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