|Project Title||Principal Investigator||Institution|
|Aberrant synaptic form and function due to TSC-mTOR-related mutation in autism spectrum disorders||Sulzer, David||Columbia University|
|Aberrant synaptic function caused by TSC mutation in autism||Sulzer, David||Columbia University|
|Activity-dependent phosphorylation of MeCP2||Ebert, Daniel||Harvard Medical School|
|Allelic choice in Rett syndrome||Donohoe, Mary||Winifred Masterson Burke Medical Research Institute|
|A longitudinal MRI study of brain development in fragile X syndrome||Hazlett, Heather||University of North Carolina at Chapel Hill|
|Angelman syndrome (AS)||Percy, Alan||University of Alabama at Birmingham|
|Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo study||Reiss, Allan||Stanford University|
|BDNF and the restoration of spine plasticity with autism spectrum disorders||Gall, Christine||University of California, Irvine|
|Cell-based genomic analysis in mouse models of Rett syndrome||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Cellular and molecular alterations in GABAergic inhibitor circuits by mutations in MeCP2||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Coordinated control of synapse development by autism-linked genes||Huber, Kimberly||University of Texas Southwestern Medical Center|
|Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome||Gibson, Jay||University of Texas Southwestern Medical Center|
|Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model||Huber, Kimberly||University of Texas Southwestern Medical Center|
|Development of novel diagnostics for fragile X syndrome||Hosono, Seiyu||JS Genetics, Inc.|
|Elucidating the roles of SHANK3 and FXR in the autism interactome||Zoghbi, Huda||Baylor College of Medicine|
|Elucidation and rescue of amygdala abnormalities in the Fmr1 mutant mouse model of fragile X syndrome||Corbin, Joshua||George Washington University|
|Establishing zebrafish as a model for RAI1 gene dosage||Elsea, Sarah; Lister, James||Virginia Commonwealth University|
|Functional circuit disorders of sensory cortex in ASD and RTT||Carlson, Gregory||University of Pennsylvania|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health|
|Genetic and developmental analyses of fragile X syndrome||Broadie, Kendal||Vanderbilt University|
|Genotype-phenotype relationships in fragile X families||Hagerman, Randi||University of California, Davis|
|Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice||Sidorov, Michael||Massachusetts Institute of Technology|
|In-vivo imaging of neuronal structure and function in a reversible mouse model for autism.||Ash, Ryan||Baylor College of Medicine|
|L-type calcium channel regulation of neuronal differentiation||Panagiotakos, Georgia||Stanford University|
|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.