|Project Title||Principal Investigator||Institution|
|Autism Genome Project (AGP)||Staff Member||Autism Speaks (AS)|
|Simons Simplex Collection||Treadwell-Deering, Diane||Baylor College of Medicine|
|Analysis of candidate genes derived from a protein interaction network in SSC samples||Zoghbi, Huda||Baylor College of Medicine|
|Simons Simplex Collection Site||Kochel, Robin||Baylor College of Medicine|
|Recessive genes for autism and mental retardation||Walsh, Christopher||Beth Israel Deaconess Medical Center|
|Genetic investigation of cognitive development in autistic spectrum disorders||Morrow, Eric||Brown University|
|Gene expression profiling of autism spectrum disorders||Collins, Christin||Children's Hospital Boston|
|Finding recessive genes for autism spectrum disorders||Walsh, Christopher||Children's Hospital Boston|
|Simons Simplex Collection Site||Walsh, Christopher||Children's Hospital Boston|
|RNA expression patterns in autism||Kunkel, Louis||Children's Hospital Boston|
|Uncovering genetic mechanisms of ASD||Kunkel, Louis||Children's Hospital Boston|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|Genome-wide association study of autism characterized by developmental regression||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Genetic basis of autism||Wigler, Michael||Cold Spring Harbor Laboratory|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia||Goldstein, David||Duke University|
|Simons Simplex Collection Site||Lese Martin, Christa||Emory University|
|Comprehensive genetic variation detection to assess the role of the X chromosome in autism||Warren, Stephen||Emory University|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute For Medical Research|
|Population genetics to improve homozygosity mapping and mapping in admixed groups||Williams, Amy||Harvard Medical School|
|Illumina, Inc.||No PI listed||Illumina, Inc.|
|The role of retrotransposons in autism spectrum disorders||Kazazian, Haig||Johns Hopkins University|
|Understanding glutamate signaling defects in autism spectrum disorders||Wang, Tao||Johns Hopkins University|
|Integrative genetic analysis of autistic brains||Arking, Dan||Johns Hopkins University School of Medicine|
|The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism||Chakravarti, Aravinda||Johns Hopkins University School of Medicine|
|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%.