|Project Title||Principal Investigator||Institution|
|Analysis of candidate genes derived from a protein interaction network in SSC samples||Zoghbi, Huda||Baylor College of Medicine|
|ACE Center: Targeting genetic pathways for brain overgrowth in autism spectrum disorders||Wynshaw-Boris, Anthony||University of California, San Diego|
|Population genetics to improve homozygosity mapping and mapping in admixed groups||Williams, Amy||Harvard Medical School|
|Genetic basis of autism||Wigler, Michael||Cold Spring Harbor Laboratory|
|Comprehensive genetic variation detection to assess the role of the X chromosome in autism||Warren, Stephen||Emory University|
|Understanding glutamate signaling defects in autism spectrum disorders||Wang, Tao||Johns Hopkins University|
|Simons Simplex Collection Site||Walsh, Christopher||Children's Hospital Boston|
|Finding recessive genes for autism spectrum disorders||Walsh, Christopher||Children's Hospital Boston|
|Recessive genes for autism and mental retardation||Walsh, Christopher||Beth Israel Deaconess Medical Center|
|Simons Simplex Collection||Treadwell-Deering, Diane||Baylor College of Medicine|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|Simons Simplex Collection Site||Sutcliffe, James||Vanderbilt University|
|Unraveling the genetic etiology of autism||Sutcliffe, James||Vanderbilt University|
|A genome-wide search for autism genes in the Simons Simplex Collection||State, Matthew||Yale University|
|ACE Center: Rare variant genetics, contactin-related proteins and autism||State, Matthew||Yale University|
|Autism Genome Project (AGP)||Staff Member||Autism Speaks (AS)|
|Investigation of DUF1220 domains in human brain function and disease||Sikela, James||University of Colorado Denver|
|Investigation of DUF1220 domains in human brain function and disease (supplement)||Sikela, James||University of Colorado Denver|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|Investigation of genes involved in synaptic plasticity in Iranian families with ASD||Santangelo, Susan||Massachusetts General Hospital|
|The transcription factor PLZF: A possible genetic link between immune dysfunction and autism||Sant'Angelo, Derek||Memorial Sloan-Kettering Cancer Center|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Hypocholesterolemic autism spectrum disorder||Porter, Forbes||National Institutes of Health|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|Identification and functional characterization of gene variants||Persico, Antonio||Universita Campus Bio-Medico di Roma|
|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%.