|Project Title||Principal Investigator||Institution|
|Autism Genetic Resource Exchange (AGRE)||Staff Member||Autism Speaks (AS)|
|Autism Genome Project (AGP)||Staff Member||Autism Speaks (AS)|
|The role of the Rett gene, chromosone 15Q11-Q13, other genes, and epigenetics||Beaudet, Arthur||Baylor College of Medicine|
|Analysis of candidate genes derived from a protein interaction network in SSC samples||Zoghbi, Huda||Baylor College of Medicine|
|Studies of postmortem brain searching for epigenetic defects causing autism||Beaudet, Arthur||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|
|Autism and the insula: Genomic and neural circuits||Allman, John||California Institute of Technology|
|Uncovering genetic mechanisms of ASD||Kunkel, Louis||Children's Hospital Boston|
|Gene expression profiling of autism spectrum disorders||Collins, Christin||Children's Hospital Boston|
|RNA expression patterns in autism||Kunkel, Louis||Children's Hospital Boston|
|Finding autism genes by genomic copy number analysis||Walsh, Christopher||Children's Hospital Boston|
|Simons Simplex Collection Site||Walsh, Christopher||Children's Hospital Boston|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection||Wigler, Michael||Cold Spring Harbor Laboratory|
|Determining the genetic basis of autism by high-resolution analysis of copy number||Sebat, Jonathan||Cold Spring Harbor Laboratory|
|Genetic basis of autism||Wigler, Michael||Cold Spring Harbor Laboratory|
|Core--Genomics/Bioinformatics--Alzheimer's disease and autism||Gilliam, Thomas||Columbia University|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|Isolation of autism susceptibility genes||Stefansson, Kari||deCODE Genetics, Inc.|
|Genetic studies in autism on chromosome 7 (supplement)||Pericak-Vance, Margaret||Duke University|
|Molecular Analysis Core (supplement)||Pericak-Vance, Margaret||Duke University|
|Neurogenetics of candidate systems in autism (supplement)||Haines, Jonathan||Duke University|
|Clinical and Bioinformatics Core (supplement)||Pericak-Vance, Margaret||Duke 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%.