|Project Title||Principal Investigator||Institution|
|Genomic profiling and functional mutation analysis in autism spectrum disorders||State, Matthew||Yale University|
|Biological correlates of altered brain growth in autism||Vaccarino, Flora||Yale University|
|5/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Sutcliffe, James||Vanderbilt University|
|4/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Schellenberg, Gerard||University of Pennsylvania|
|Genetic study of restricted repetitive behavior in autism spectrum disorders||Kim, Soo-Jeong||University of Florida|
|A systems biology approach to unravel the underlying functional modules of ASD||Iakoucheva, Lilia||University of California, San Diego|
|Neural and phenotypic correlates of autism risk genes||Bookheimer, Susan||University of California, Los Angeles|
|3/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Buxbaum, Joseph||Mount Sinai School of Medicine|
|Human autism genetics and activity-dependent gene activation||Walsh, Christopher||Children's Hospital Boston|
|2/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Daly, Mark||Broad Institue, Inc.|
|1/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Gibbs, Richard||Baylor College of Medicine|
|IACC Strategic Plan Objective||2008||2009||2010||2011||2012||Total|
|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 who share an identified genetic variant and stratify subjects according to behavioral, cognitive, and clinical features.
IACC Recommended Budget: $43,700,000 over 4 years
|3.S.A. Funding: The recommended budget was partially met, and is approaching the recommended budget.
Progress: Progress has been made on this objective through the funding of several GWAS and sequencing projects. The current number of 6,000 GWAS subjects falls short of the goal of 20,000, but the number of whole exome sequences far exceeds 1,200, and could also reach 6,000 in the next year. Whole exome sequencing has identified 7-10 candidate genes, and promises to move closer to the goal of 50 in the future. Progress is being made in CNV studies. Overall, the work is on target.
Remaining Gaps, Needs, and Opportunities: More subtyping and genotype-phenotype work outside of syndromic forms of autism, as well as natural history studies, are needed.