|Project Title||Principal Investigator||Institution|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Clinical and Bioinformatics Core (supplement)||Pericak-Vance, Margaret||Duke University|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|A molecular genetic study of autism and related phenotypes in extended pedigrees||Piven, Joseph||University of North Carolina at Chapel Hill|
|Research Center for the Study of Gene Structure and Function (supplement)||Raab, Jennifer||Hunter College|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Investigation of genes involved in synaptic plasticity in Iranian families with ASD||Santangelo, Susan||Massachusetts General Hospital|
|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 high-resolution analysis of copy number||Sebat, Jonathan||Cold Spring Harbor Laboratory|
|Autism Genetic Resource Exchange (AGRE)||Staff Member||Autism Speaks (AS)|
|Autism Genome Project (AGP)||Staff Member||Autism Speaks (AS)|
|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|
|Simons Simplex Collection Site||Sutcliffe, James||Vanderbilt University|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|Role of micro-RNAs in ASD affected circuit formation and function||Ullian, Erik||University of California, San Francisco|
|Identification and functional assessment of autism susceptibility genes||Vieland, Veronica||The Research Institute at Nationwide Children's Hospital|
|Finding autism genes by genomic copy number analysis||Walsh, Christopher||Children's Hospital Boston|
|Recessive genes for autism and mental retardation||Walsh, Christopher||Beth Israel Deaconess Medical Center|
|Simons Simplex Collection Site||Walsh, Christopher||Children's Hospital Boston|
|Understanding glutamate signaling defects in autism spectrum disorders||Wang, Tao||Johns Hopkins University|
|Comprehensive genetic variation detection to assess the role of the X chromosome in autism||Warren, Stephen||Emory University|
|Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection||Wigler, Michael||Cold Spring Harbor Laboratory|
|Genetic basis of autism||Wigler, Michael||Cold Spring Harbor Laboratory|
|IACC Strategic Plan Objective||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%.