|Project Title||Principal Investigator||Institution|
|1/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Gibbs, Richard||Baylor College of Medicine|
|2/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Daly, Mark||Broad Institute|
|3/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Buxbaum, Joseph||Mount Sinai School of Medicine|
|4/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Schellenberg, Gerard||University of Pennsylvania|
|5/5-Elucidating the genetic architecture of autism by deep genomic sequencing||Sutcliffe, James||Vanderbilt University|
|Advanced parental age and autism: The role of aneuploidy and uniparental disomy in ASD pathogenesis||Berko, Esther||Albert Einstein College of Medicine of Yeshiva University|
|A molecular genetic study of autism and related phenotypes in extended pedigrees||Piven, Joseph||University of North Carolina at Chapel Hill|
|A molecular genetic study of autism and related phenotypes in extended pedigrees (supplement)||Piven, Joseph||University of North Carolina at Chapel Hill|
|Biological correlates of altered brain growth in autism||Vaccarino, Flora; Gerstein, Mark; Grigorenko, Elena; Weissman, Sherman||Yale University|
|Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection||Wigler, Michael; McCombie, William||Cold Spring Harbor Laboratory|
|Dissecting epistasis and pleiotropy in autism towards personalized medicine||Weiss, Lauren||University of California, San Francisco|
|Finding autism genes by genomic copy number analysis||Walsh, Christopher||Children's Hospital Boston|
|Genomic profiling and functional mutation analysis in autism spectrum disorders||State, Matthew; Giraldez, Antonio||Yale University|
|Human autism genetics and activity dependent gene activation||Walsh, Christopher||Children's Hospital Boston|
|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.