|Project Title||Principal Investigator||Institution|
|The frequency of polymorphisms in maternal- and paternal-effect genes in autism spectrum||Levine, Arnold||Princeton University|
|Hypocholesterolemic autism spectrum disorder||Porter, Forbes||National Institutes of Health|
|Genetic epidemiology of complex traits||Bailey-Wilson, Joan||National Institutes of Health|
|The transcription factor PLZF: A possible genetic link between immune dysfunction and autism||Sant'Angelo, Derek||Memorial Sloan-Kettering Cancer Center|
|The role of the neurexin 1 gene in susceptibility to autism||Gusella, James||Massachusetts General Hospital/Harvard Medical School|
|Investigation of genes involved in synaptic plasticity in Iranian families with ASD||Santangelo, Susan||Massachusetts General Hospital|
|Genes disrupted by balanced genomic rearrangements in autism spectrum disorders||Gusella, James||Massachusetts General Hospital|
|Comprehensive follow-up of novel autism genetic discoveries||Daly, Mark||Massachusetts General Hospital|
|A recurrent genetic cause of autism||Gusella, James||Massachusetts General Hospital|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|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|
|Understanding glutamate signaling defects in autism spectrum disorders||Wang, Tao||Johns Hopkins University|
|The role of retrotransposons in autism spectrum disorders||Kazazian, Haig||Johns Hopkins University|
|Illumina, Inc.||No PI listed||Illumina, Inc.|
|Population genetics to improve homozygosity mapping and mapping in admixed groups||Williams, Amy||Harvard Medical School|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute For Medical Research|
|Comprehensive genetic variation detection to assess the role of the X chromosome in autism||Warren, Stephen||Emory University|
|Simons Simplex Collection Site||Lese Martin, Christa||Emory University|
|Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia||Goldstein, David||Duke University|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|Genetic basis of autism||Wigler, Michael||Cold Spring Harbor Laboratory|
|Genome-wide association study of autism characterized by developmental regression||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|Uncovering genetic mechanisms of ASD||Kunkel, Louis||Children's Hospital Boston|
|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%.