Autism Spectrum Disorder (ASD) is defined by challenges with communication, social reciprocity, and behaviour. ASD is the most common childhood neurodevelopmental disorder and is increasing at an alarming rate. Indeed, 1 in 66 Canadians are currently diagnosed with ASD, indirectly impacting > 1 in 20 people. Despite considerable evidence demonstrating that early intervention improves behavioral outcomes, children with ASD are often not diagnosed until they are 3-4 years of age or older. iTARGET has developed strategies to identify children with (or at risk for) ASD much earlier, and a precision medicine framework for ASD care based on genotype and deep phenotype profiles.
iTARGET successfully sequenced the whole genomes of 282 autistic persons (688 genomes including parents). In addition, whole-body phenotype, metabolome and proteome data was analyzed from a subset of those with ASD, including their gut microbiome. This ‘multi-omic’ data was collated alongside familial control data into an ASD database (ASDBase). As a result, important molecular and phenotypic subgroups of individuals were identified in association with unique medical and/or behavioural features (comprising new autism syndromes +/- physical changes, intellectual disability (ID), epilepsy, severe self-injurious behaviours etc).
iTARGET leveraged commitment of the federal government to ASD research through the creation of a national Autism-ID (Knowledge) Exchange (AIDE) Network, a first of its kind in Canada, offering individuals/families a curated online library, database network for collating new research findings, health information, including a patient/parent data-sharing portal. Using cloud-based big data tools for knowledge exchange, AIDE-Canada is reducing regional disparities and enabling equitable access to autism research and services across the country.
Additionally, iTARGET co-founded and co-leads the international Autism Sharing Initiative (ASI), which is bringing together the world’s most ambitious efforts in autism to create the first federated, global network for sharing genomics and clinical data to accelerate discoveries and the development of precision therapeutics in autism.