Familial polygenic risk burden in families with Autism Spectrum Disorder and the Broader Autism Phenotype

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterised by impairments in social communication and interaction, and restricted and repetitive behaviours. Although over a hundred genes have been associated with ASD, the cause for majority of cases remains unknown. There is a strong genetic basis for ASD, and ASD-related traits are often seen in family members of individuals who demonstrate milder autistic traits with the Broader Autism Phenotype (BAP) but do not meet criteria for a full ASD diagnosis. This study aims to investigate whether these phenotypes may arise due to a higher burden of common genetic risk variants, as captured by a higher polygenic risk score for ASD.  We also aim to improve identification and phenotypic characterisation of the BAP by studying differences in expression at the brain and behavioural level.


Enquiries: Dr Emmanuel Pua (pk.pua@unimelb.edu.au)


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