|Project Title||Principal Investigator||Institution|
|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|
|Clinical trial: Genomic copy number variation in autism||Pomeroy, John||Stony Brook University, The State University of New York|
|Genes that deregulate mTOR signaling as candidates for autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|Determining the genetic basis of autism by hi-resolution analysis of copy number||Sebat, Jonathan||Cold Spring Harbor Laboratory|
|Autism Genome Project (AGP)||Shih, Andy||Autism Speaks|
|A genome-wide search for autism genes in the Simons Simplex Collection||State, Matthew||Yale University|
|Isolation of autism susceptibility genes||Stefansson, Kari||Decode Genetics, Inc.|
|Unraveling the genetic etiology of autism||Sutcliffe, James||Vanderbilt University|
|Genetic analysis of 15q11-q13 in autism||Sutcliffe, James||Vanderbilt University|
|Simons Simplex Collection Site - 12||Sutcliffe, James||Vanderbilt University|
|Hindbrain dysgenesis in Rett syndrome and other autism spectrum disorders||Swanberg, Susan||University of California, Davis|
|Potential role of noncoding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals and Clinics|
|Neuroligin and autism||Taylor, Palmer||University of California, San Diego|
|Role of micro-RNAs in ASD affected circuit formation and function||Ullian, Erik||University of California, San Francisco|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health|
|Etiology of autism risk involving MET gene and the environment||Van de Water, Judy||University of California, Davis|
|Identification and functional assessment of autism susceptibility genes - 3||Vieland, Veronica||The Research Institute at Nationwide Children's Hospital|
|Identification of autism candidate genes on the X-chromosome from copy number variants identified by 500K SNP-CHIP analysis||Vincent, John||Centre For Addiction And Mental Health|
|Gene finding - 2||Walsh, Christopher||Boston Children's Hospital|
|Exploring the role of CC2D1A in neuronal development and synaptic function||Walsh, Christopher||Harvard University|
|Recessive genes for autism and mental retardation||Walsh, Christopher||Beth Israel Deaconess Medical Center|
|Simons Simplex Collection Site - 13||Walsh, Christopher||Boston Children's Hospital|
|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%.