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Autism Spectrum Disorders: Genomes to Outcomes

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Scherer, Stephen

Hospital for Sick Children


3 years







Autism Spectrum Disorder (ASD) is a neurodevelopmental condition associated with lifelong disabilities which has become one of today's most urgent public health challenges as it affects more than 1% of the population. The demand for support services/ interventions is exploding and putting great demands on the health care system for a timely/ accurate diagnosis and entry to services and care. Approximately 20% of risk for ASD resides in rare genetic variants and this coupled with the high heritability (37-90%) indicates there may be hundreds of ASD susceptibility genes yet to be found. Whole genome sequencing (WGS) holds the promise to capture all classes of genetic variation and this project will sequence 700 well-characterized Canadian families. This sequencing data will be shared with the international Autism Sequencing Consortium (ASC), whose ultimate goal is to collect sequence data from 10,000 families with ASD. Genomic personalized health services for ASD will be integrated by translating the WGS methods and findings from the research lab to the clinical setting thus developing a program to enable earlier diagnosis which is critical for personal intervention, risk assessment, prognosis and treatment of ASD. Additionally health technology assessment of the genomic analyses extended to all individuals with ASD will be performed by conducting a longitudinal research project to study how WGS can facilitate and improve outcomes throughout the lifespan of those with ASD.

Genetics, Gene Sequencing, Genomics, Whole Exon Sequencing, Biology, Screening/ Diagnosis/ Phenotyping, Dissemination, Toddlers (18 Months-3 Years), Children (3-12 Years), Adolescents/ Young Adults (13-25 Years), Adults (>25 Years), Autism Spectrum Disorder, Aspergers/ High-Functioning Individuals With ASD, Low-Functioning/ Non-Verbal Individuals With ASD

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