Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Clinical and gene signatures of ASDs  

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. Project Status
ONGOING

2010

Funder Autism Speaks
Fiscal Year Funding $0.00
Current Award Period 2008-2010
Project Number 2173
Principal Investigator Lewis, Suzanne
Received ARRA Funding? No
Strategic Plan Question Question 1: When Should I Be Concerned? (Diagnosis)
Subcategory Intermediate Phenotypes/Subgroups
Strategic Plan Objective New! 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.
Federal or Private? Private
Institution University of British Columbia
State/Country Canada
Web Link 1 Clinical and gene signatures of ASDs (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Clinical and gene signatures of ASDs | $61,000.00 | 2009 | 2173
Clinical and gene signatures of ASDs | $61,000.00 | 2008 | 2173