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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

Advanced Autism Genetics: Biological Subgroups, Diagnostic Classification, and Resilience.

Principal Investigator

Principal Investigator

Tylee, Daniel

Description

Description

ASDs are heritable, yet gene-based diagnosis of ASD has not materialized. Why do some individuals develop ASDs while some of their siblings are resilient? Biological heterogeneity may obscure the answer. Identification of genetic ASD subgroups will aid classification of ASD and typically developing (TD) subjects. Resilience genes may buffer against development of ASDs in subjects with high genetic risk. Genetic subgrouping may improve our ability to detect resilience factors. This project will: 1) Characterize genetic ASD subgroups using GWAS methods on data from the Autism Genome Project (AGP) to identify risk SNPs for ASD, cluster those SNPs, and assign subjects to genetic subgroups. 2) Compare classifiers of ASD and biological subgroups. Using AGP SNP data, support vector machines (SVMs) will be used to classify ASD and TD subjects. A binary classifier will be compared to multi-group classifiers corresponding to Aim-1 subgroups. Classifier generalizability will be tested in a larger, independent ASD dataset from the Psychiatric Genomics Consortium. 3) Identify ASD resilience genes, creating polygenic risk scores for AGP subjects, and identifying TD subjects with high ASD risk scores (resilient TDs). A GWAS contrasting resilient TDs and ASD subjects will identify SNPs that may buffer against ASDs.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

30000

Current Award Period

Current Award Period

2015-2017

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

Advanced Autism Genetics: Biological Subgroups, Diagnostic Classification, and Resilience. (External web link)

Institution

Institution

State University of New York, Upstate Medical University

State/Country

State/Country

New York

Project Number

Project Number

9645

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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