|Project Title||Principal Investigator||Institution|
|Autism Genome Project (AGP)||Shih, Andy||Autism Speaks|
|Determining the genetic basis of autism by hi-resolution analysis of copy number||Sebat, Jonathan||Cold Spring Harbor Laboratory|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|Genes that deregulate mTOR signaling as candidates for autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Clinical trial: Genomic copy number variation in autism||Pomeroy, John||Stony Brook University, The State University of New York|
|Neural circuitry of social cognition in the broad autism phenotype||Piven, Joseph||University of North Carolina at Chapel Hill|
|A molecular genetic study of autism and related phenotypes in extended pedigrees||Piven, Joseph||University of North Carolina at Chapel Hill|
|Simons Simplex Collection Site - 11||Peterson, Bradley||Columbia University|
|Genetic studies in autism on chromosome 7||Pericak-Vance, Margaret||Duke University|
|Clinical and bioinformatics core||Pericak-Vance, Margaret||Duke University|
|Molecular analysis core||Pericak-Vance, Margaret||Duke University|
|Chromatin remodeling and neuronal differentiation||Pazin, Michael||National Institutes of Health|
|Translational genetic studies in familial ASDs||Morrow, Eric||Massachusetts General Hospital|
|Identifying and understanding the action of autism susceptibility genes||Monaco, Anthony||University of Oxford|
|Identification and functional assessment of autism susceptibity genes - 2||Millonig, James||University of Medicine & Dentistry of New Jersey - Robert Wood Johnson Medical School|
|Simons Simplex Collection Site - 10||Miles, Judith||University of Missouri|
|Simons Simplex Collection Site - 9||Lord, Catherine||University of Michigan|
|Autism and SNPs in the IGF pathway||Levine, Arnold||Princeton University|
|Simons Simplex Collection Site - 8||Ledbetter, David||Emory University|
|The role of MECP2 in Rett syndrome||LaSalle, Janine||University of California, Davis|
|Epigenetic etiologies of autism spectrum disorders||LaSalle, Janine||University of California, Davis|
|The role of MECP2 in Rett syndrome - Supplement||LaSalle, Janine||University of California, Davis|
|Center for genomic and phenomic studies in autism||Lajonchere, Clara||University of Southern California|
|Autism Genetic Resource Exchange (AGRE)||Lajonchere, Clara||Autism Speaks|
|IACC Strategic Plan Objectives||2008||2009||2010||2011||2012||Total|
|Identify genetic risk factors in at least 50% of people with ASD by 2014.
IACC Recommended Budget: $33,900,000 over 6 years
|3.L.B. Funding: The recommended budget was met. Significantly more than the recommended minimum budget was allocated to projects specific to this objective.
Progress: Further work is needed to identify genetic risk factors in at least 50% of people. Currently, whole exome analysis predicts that a genetic risk factor can be identified for 20% of people; inclusion of CNV data might push this toward 30%.
Remaining Gaps, Needs, and Opportunities: The initial budget recommendation for this objective was made based on the assumption that GWAS studies would provide risk factor identification, but sequencing has proven more fruitful. Since this technique is more expensive, a higher budget will be required to meet the goal of 50%.