|Project Title||Principal Investigator||Institution|
|Presynaptic fragile X proteins||Akins, Michael||Brown University|
|In-vivo imaging of neuronal structure and function in a reversible mouse model for autism.||Ash, Ryan||Baylor College of Medicine|
|Genetic and developmental analyses of fragile X syndrome||Broadie, Kendal||Vanderbilt University|
|Functional circuit disorders of sensory cortex in ASD and RTT||Carlson, Gregory||University of Pennsylvania|
|Molecular basis of autism associated with human adenylosuccinate lyase gene defects||Colman, Roberta||University of Delaware|
|Elucidation and rescue of amygdala abnormalities in the Fmr1 mutant mouse model of fragile X syndrome||Corbin, Joshua||George Washington University|
|Synaptic phenotype, development, and plasticity in the fragile X mouse||Cox, Charles||University of Illinois at Urbana Champaign|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||DiDonato, Christine||Children's Memorial Hospital, Chicago|
|Allelic choice in Rett syndrome||Donohoe, Mary||Winifred Masterson Burke Medical Research Institute|
|Activity-dependent phosphorylation of MeCP2||Ebert, Daniel||Harvard Medical School|
|Establishing zebrafish as a model for RAI1 gene dosage||Elsea, Sarah; Lister, James||Virginia Commonwealth University|
|Probing disrupted cortico-thalamic interactions in autism spectrum disorders||Fagiolini, Michela; Chen, Chinfei||Children's Hospital Boston|
|BDNF and the restoration of spine plasticity with autism spectrum disorders||Gall, Christine||University of California, Irvine|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||University of Massachusetts Medical School|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||J. David Gladstone Institutes|
|Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome||Gibson, Jay||University of Texas Southwestern Medical Center|
|Neuronal activity-dependent regulation of MeCP2||Greenberg, Michael||Harvard Medical School|
|Neuronal activity-dependent regulation of MeCP2 (supplement)||Greenberg, Michael||Harvard Medical School|
|Genotype-phenotype relationships in fragile X families||Hagerman, Randi||University of California, Davis|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|A longitudinal MRI study of brain development in fragile X syndrome||Hazlett, Heather||University of North Carolina at Chapel Hill|
|The role of intracellular metabotropic glutamate receptor 5 at the synapse||Hogan, Carolyn||Washington University in St. Louis|
|Development of novel diagnostics for fragile X syndrome||Hosono, Seiyu||JS Genetics, Inc.|
|Cellular and molecular alterations in GABAergic inhibitor circuits by mutations in MeCP2||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Cell-based genomic analysis in mouse models of Rett syndrome||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|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.