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

Project Title

Project Title

Clinical and gene signatures of ASDs

Principal Investigator

Principal Investigator

Lewis, Suzanne

Description

Description

Reports estimate that 5-28% of individuals with autism have chromosome anomalies, and this wide range depends on whether subjects have physical abnormalities and/or cognitive delay. By applying a new screening method to people with complex forms of autism that include physical deformities with or without intellectual disability, Dr. Lewis and colleagues have found previously unknown genomic changes in autism. Dr. Lewis' post-doctoral fellow will apply this screening method to additional subjects with both complex and simple forms of autism, in collaboration with the Genetics Team of the Autism Spectrum Disorders Canadian-American Research Consortium (ASD-CARC). This study will characterize chromosomal anomalies with respect to their parent of origin, size, breakpoints, association with flanking sequence variations, selected candidate genes, and their presence in controls and the broader autism population. More refined phenotype information will also be collected, including measurements of craniofacial morphology, in order to associate genetic findings with specific autism subgroups. This study will help make sense of the large number of chromosomal anomalies related to autism by sorting out how these genetic changes segregate according to complex or simple forms of autism. These specific genetic profiles will eventually allow earlier and more accurate diagnosis.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2008-2010

Strategic Plan Question

Strategic Plan Question

Question 1: When Should I Be Concerned?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 1SE. Conduct at least one study to determine the positive predictive value and clinical utility (e.g., prediction of co-occurring conditions, family planning) of chromosomal microarray genetic testing for detecting genetic diagnoses for ASD in a clinical setting by 2012. IACC Recommended Budget: $9,600,000 over 5 years.

Project Link

Project Link

Clinical and gene signatures of ASDs (External web link)

Institution

Institution

University of British Columbia

State/Country

State/Country

Canada

Project Number

Project Number

2173

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Clinical and gene signatures of ASDs | 61000 | 2009 | 2173
Clinical and gene signatures of ASDs | 61000 | 2008 | 2173

 
Back to Top