|Project Title||Principal Investigator||Institution|
|Investigation of DUF1220 domains in human brain function and disease (supplement)||Sikela, James||University of Colorado Denver|
|Investigation of genes involved in synaptic plasticity in Iranian families with ASD||Santangelo, Susan||Massachusetts General Hospital|
|Linking autism and congenital cerebellar malformations||Millen, Kathleen||University of Chicago|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Pathway-based genetic studies of autism spectrum disorder||Bucan, Maja||University of Pennsylvania|
|Population genetics to improve homozygosity mapping and mapping in admixed groups||Williams, Amy||Harvard Medical School|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|Recessive genes for autism and mental retardation||Walsh, Christopher||Beth Israel Deaconess Medical Center|
|Relevance of NPAS1/3 balance to autism and schizophrenia||McKnight, Steven||University of Texas Southwestern Medical Center|
|RNA expression patterns in autism||Kunkel, Louis||Children's Hospital Boston|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Simons Simplex Collection||Treadwell-Deering, Diane||Baylor College of Medicine|
|Simons Simplex Collection Site||Bernier, Raphael||University of Washington|
|Simons Simplex Collection Site||Cook, Edwin||University of Illinois at Chicago|
|Simons Simplex Collection Site||Lese Martin, Christa||Emory University|
|Simons Simplex Collection Site||Sutcliffe, James||Vanderbilt University|
|Simons Simplex Collection Site||Walsh, Christopher||Children's Hospital Boston|
|Simons Simplex Collection Site||Fombonne, Eric||The Research Institute of the McGill University Health Centre|
|Simons Simplex Collection Site||Geschwind, Daniel||University of California, Los Angeles|
|Simons Simplex Collection Site||Kochel, Robin||Baylor College of Medicine|
|Simons Simplex Collection Site||Lord, Catherine||University of Michigan|
|Simons Simplex Collection Site||Miles, Judith||University of Missouri|
|Simons Simplex Collection Site||Pelphrey, Kevin||Yale University|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|The frequency of polymorphisms in maternal- and paternal-effect genes in autism spectrum||Levine, Arnold||Princeton University|
|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%.