|Project Title||Principal Investigator||Institution|
|In-vivo imaging of neuronal structure and function in a reversible mouse model for autism.||Ash, Ryan||Baylor College of Medicine|
|Elucidating the roles of SHANK3 and FXR in the autism interactome||Zoghbi, Huda||Baylor College of Medicine|
|Presynaptic fragile X proteins||Akins, Michael||Brown University|
|Visual system connectivity in a high-risk model of autism||Sahin, Mustafa||Children's Hospital Boston|
|Probing disrupted cortico-thalamic interactions in autism spectrum disorders||Fagiolini, Michela; Chen, Chinfei||Children's Hospital Boston|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||DiDonato, Christine||Children's Memorial Hospital, Chicago|
|Neural circuit deficits in animal models of Rett syndrome||Xiong, Qiaojie||Cold Spring Harbor Laboratory|
|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|
|Aberrant synaptic function caused by TSC mutation in autism||Sulzer, David||Columbia University|
|Aberrant synaptic form and function due to TSC-mTOR-related mutation in autism spectrum disorders||Sulzer, David||Columbia University|
|New approaches to local translation: SpaceSTAMP of proteins synthesized in axons||Segal, Rosalind||Dana-Farber Cancer Institute|
|Quantitative proteomic approach towards understanding and treating autism||Jin, Peng||Emory University|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|Elucidation and rescue of amygdala abnormalities in the Fmr1 mutant mouse model of fragile X syndrome||Corbin, Joshua||George Washington University|
|Activity-dependent phosphorylation of MeCP2||Ebert, Daniel||Harvard Medical School|
|Neuronal activity-dependent regulation of MeCP2 (supplement)||Greenberg, Michael||Harvard Medical School|
|Neuronal activity-dependent regulation of MeCP2||Greenberg, Michael||Harvard Medical School|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||J. David Gladstone Institutes|
|Olfactory abnormalities in the modeling of Rett syndrome||Ronnett, Gabriele||Johns Hopkins University|
|Development of novel diagnostics for fragile X syndrome||Hosono, Seiyu||JS Genetics, Inc.|
|MicroRNAs in synaptic plasticity and behaviors relevant to autism||Kelleher, Raymond||Massachusetts General Hospital|
|Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice||Sidorov, Michael||Massachusetts Institute of Technology|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health|
|Translation regulation in hippocampal LTP and LTD||Klann, Eric||New York 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.