|Project Title||Principal Investigator||Institution|
|Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions||Parada, Luis||University of Texas Southwestern Medical Center|
|The mechanism and significance of Evf ncRNA regulation of the DLX genes||Kohtz, Jhumku||University of Washington|
|Genetic and developmental analyses of fragile X syndrome||Broadie, Kendal||Vanderbilt University|
|Establishing zebrafish as a model for RAI1 gene dosage||Elsea, Sarah; Lister, James||Virginia Commonwealth University|
|The role of intracellular metabotropic glutamate receptor 5 at the synapse||Hogan, Carolyn||Washington University in St. Louis|
|Role of intracellular mGluR5 in fragile X syndrome and autism||O'Malley, Karen||Washington University in St. Louis|
|Allelic choice in Rett syndrome||Donohoe, Mary||Winifred Masterson Burke Medical Research Institute|
|IACC Strategic Plan Objective||2008||2009||2010||2011||2012||Total|
|Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g., Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012.
IACC Recommended Budget: $9,000,000 over 5 years
|2.S.D. Funding: The recommended budget was met. Significantly more than the recommended minimum budget was allocated to projects specific to this objective.
Progress: A large number of projects were funded that address this objective. Investment in this area has doubled since 2009, and in 2013, NIH began funding an ACE center focused on tuberous sclerosis. Much is being learned about conditions related to autism that can be applied to autism. This objective is on track.
Remaining Gaps, Needs and Opportunities: The next step will be to translate findings in this area into clinically useful therapies.