|Project Title||Principal Investigator||Institution|
|Simons Simplex Collection Site - 8||Ledbetter, David||Emory University|
|Genomic resources for identifying genes regulating social behavior||Young, Larry||Emory University|
|Vasopressin receptors and social attachment||Young, Larry||Emory University|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute For Medical Research|
|Exploring the role of CC2D1A in neuronal development and synaptic function||Walsh, Christopher||Harvard University|
|Understanding glutamate signaling defects in autism spectrum disorders||Wang, Tao||Johns Hopkins University|
|The role of Contactin-associated Protein-like 2 (CNTNAP2) and other novel genes in autism||Chakravarti, Aravinda||Johns Hopkins University School of Medicine|
|A recurrent genetic cause of autism||Gusella, James||Massachusetts General Hospital|
|Genes that deregulate mTOR signaling as candidates for autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Gene finding - 1||Gusella, James||Massachusetts General Hospital|
|Translational genetic studies in familial ASDs||Morrow, Eric||Massachusetts General Hospital|
|Comprehensive follow-up of novel autism genetic discoveries||Daly, Mark||Massachusetts General Hospital|
|Chromatin remodeling and neuronal differentiation||Pazin, Michael||National Institutes of Health|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health|
|Autism and SNPs in the IGF pathway||Levine, Arnold||Princeton University|
|Identification and functional assessment of autism susceptibility genes - 1||Brzustowicz, Linda||Rutgers, The State University of New Jersey - New Brunswick|
|Genetic studies of autism susceptibility||Brzustowicz, Linda||Rutgers University|
|A California population-based twin study of autism||Hallmayer, Joachim||Stanford University|
|Clinical trial: Genomic copy number variation in autism||Pomeroy, John||Stony Brook University, The State University of New York|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|Identification and functional assessment of autism susceptibility genes - 3||Vieland, Veronica||The Research Institute at Nationwide Children's Hospital|
|Simons Simplex Collection Site - 5||Fombonne, Eric||The Research Institute of the McGill University Health Centre|
|The role of MECP2 in Rett syndrome - Supplement||LaSalle, Janine||University of California, Davis|
|Epigenetic etiologies of autism spectrum disorders||LaSalle, Janine||University of California, Davis|
|Genotype-phenotype relationships in fragile X families||Hagerman, Randi||University of California, Davis|
|IACC Strategic Plan Objectives||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%.