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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Genomic influences on developmental course and outcome in Infants at risk of ASD: A Baby Siblings Research Consortium (BSRC) Study

Principal Investigator

Principal Investigator

Zwaigenbaum, Lonnie

Description

Description

There has been substantial progress in identifying ASD susceptibility genes; specifically, rare de novo and inherited "copy number variants" (CNVs) involving neuronal synaptic genes. These rare variants appear to be highly penetrant and collectively account for a significant proportion of ASD cases. Concurrently, studies of younger siblings of children with ASD have helped inform the field about the earliest signs of autism, although behaviourally-based assessments are of uncertain stability when conducted at an early age. If genetic biomarkers could be used to identify infants likely to develop ASD, this could revolutionize opportunities for earlier diagnosis and treatment. Given the etiologic heterogeneity of ASD and the low frequency of individual CNVs, the success of such efforts will depend on collaboration to generate sufficiently large samples. The research team is ideally positioned to lead such efforts, based on 1) the largest collective sample of high-risk infants internationally; 2) extensive longitudinal phenotypic measures from age 6 to 36 months across sites; 3) ongoing collection of common measures compiled in a central database; 4) close relationships with participating families facilitating re-consenting for genetic studies; 5) links to large-scale sequencing efforts involving international ASD cohorts generating a comprehensive battery of candidate CNVs for microarray testing. The researchers will recruit a total of 435 families from among their current research participants to obtain DNA samples from high-risk infants, probands (i.e., the older child in the family with the established ASD diagnosis) and parents. Recruitment will be limited to families in which the high-risk infant has been followed to at least 3 years, to ensure reliability of diagnostic outcome assessment. A biorepository including DNA samples and cell lines from the Baby Siblings Research Consortium (BSRC) families will be established within the Autism Genetic Resource Exchange (AGRE), housed at the NIMH Center for Genetic Studies at Rutgers University, and funded by a parallel grant submission to the Simons Foundation. The development of genomic risk assessment and testing strategies based on these discoveries has the potential to transform clinical practice, optimizing development, outcomes and quality of life for the many individuals and families affected by ASD.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

149882

Current Award Period

Current Award Period

2011-2014

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 3SA. Coordinate and implement the inclusion of approximately 20,000 subjects for genome-wide association studies, as well as a sample of 1,200 for sequencing studies to examine more than 50 candidate genes by 2011. Studies should investigate factors contributing to phenotypic variation across individuals that share an identified genetic variant and stratify subjects according to behavioral, cognitive, and clinical features. IACC Recommended Budget: $43,700,000 over 4 years.

Project Link

Project Link

Genomic influences on developmental course and outcome in Infants at risk of ASD: A Baby Siblings Research Consortium (BSRC) Study (External web link)

Institution

Institution

University of Alberta

State/Country

State/Country

Canada

Project Number

Project Number

7676

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Genomic influences on developmental course and outcome in Infants at risk of ASD: A Baby Siblings Research Consortium (BSRC) Study | 0 | 2011 | 7676
Genomic influences on developmental course and outcome in Infants at risk of ASD: A Baby Siblings Research Consortium (BSRC) Study | 147661 | 2012 | 7676
Genomic influences on developmental course and outcome in Infants at risk of ASD: A Baby Siblings Research Consortium (BSRC) Study | 0 | 2015 | 7676
Genomic influences on developmental course and outcome in Infants at risk of ASD: A Baby Siblings Research Consortium (BSRC) Study | 148802 | 2014 | 7676

 
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