|Project Title||Principal Investigator||Institution|
|Genotype-phenotype relationships in fragile X families||Hagerman, Randi||University of California, Davis|
|The role of MECP2 in Rett syndrome||LaSalle, Janine||University of California, Davis|
|Hindbrain dysgenesis in Rett syndrome and other autism spectrum disorders||Swanberg, Susan||University of California, Davis|
|Neurogenomics in a model for procedural learning||Hilliard, Austin||University of California, Los Angeles|
|A system biology approach to autism genetics||Geschwind, Daniel||University of California, Los Angeles|
|Simons Simplex Collection Site - 6||Geschwind, Daniel||University of California, Los Angeles|
|Neuroligin and autism||Taylor, Palmer||University of California, San Diego|
|Patient-oriented research in recessive pediatric brain diseases||Gleeson, Joseph||University of California, San Diego|
|Demonstration of the novel RASL/DASL method for analysis of gene expression in frontal cortex in autism and control cases||Courchesne, Eric||University of California, San Diego|
|Role of micro-RNAs in ASD affected circuit formation and function||Ullian, Erik||University of California, San Francisco|
|Genomic imbalances in autism - AS||Kumar, Ravinesh||University of Chicago|
|Genomic imbalances in autism - NIH||Christian, Susan||University of Chicago|
|Genetic study of restricted repetitive behavior in autism spectrum disorders||Kim, Soo-Jeong||University of Florida|
|Genetic dissection of restricted repetitive behavior (RRB)||Kim, Soo-Jeong||University of Florida|
|Simons Simplex Collection Site - 4||Cook, Edwin||University of Illinois at Chicago|
|Simons Simplex Collection Site - 14||Deutsch, Curtis||University of Massachusetts Medical School|
|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 - 9||Lord, Catherine||University of Michigan|
|Simons Simplex Collection Site - 10||Miles, Judith||University of Missouri|
|A molecular genetic study of autism and related phenotypes in extended pedigrees||Piven, Joseph||University of North Carolina at Chapel Hill|
|Neural circuitry of social cognition in the broad autism phenotype||Piven, Joseph||University of North Carolina at Chapel Hill|
|Identifying and understanding the action of autism susceptibility genes||Monaco, Anthony||University of Oxford|
|Neurobiology of sociability in a mouse model system relevant to autism||Brodkin, Edward||University of Pennsylvania|
|Center for genomic and phenomic studies in autism||Lajonchere, Clara||University of Southern California|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|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%.