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Autism Spectrum Disorders: Genomes to Outcomes

2014 Targeted

Hospital for Sick Children
Toronto, Ontario

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.

Publication12/18/2014The human splicing code reveals new insights into the genetic determinants of disease
Publication11/09/2017Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Publication08/03/2016Genome-wide characteristics of de novo mutations in autism
Publication07/27/2017Communicating complex genomic information: A counselling approach derived from research experience with autism spectrum disorder
Publication05/22/2017Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Publication05/01/2017Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes
Publication03/06/2017Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Publication01/26/2015Whole-genome sequencing of quartet families with autism spectrum disorder
Publication01/04/2018A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data




Scherer, Stephen

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3 years

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