|Project Title||Principal Investigator||Institution|
|Identification of UBE3A substrates using proteomic profiling in Drosophila||Reiter, Lawrence||University of Tennessee Health Science Center|
|Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice||Sidorov, Michael||Massachusetts Institute of Technology|
|Molecular basis of autism associated with human adenylosuccinate lyase gene defects||Colman, Roberta||University of Delaware|
|Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions||Parada, Luis||University of Texas Southwestern Medical Center|
|Mouse models of the neuropathology of tuberous sclerosis complex||Gambello, Michael||University of Texas Health Science Center at Houston|
|Neural circuit deficits in animal models of Rett syndrome||Xiong, Qiaojie||Cold Spring Harbor Laboratory|
|Neuroligin regulation of central GABAergic synapses||Fu, Zhanyan||Duke University|
|Olfactory abnormalities in the modeling of Rett syndrome||Ronnett, Gabriele||Johns Hopkins University|
|Probing a monogenic form of autism from molecules to behavior||Tsien, Richard||Stanford University|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A (supplement)||Reiter, Lawrence||University of Tennessee Health Science Center|
|Regulation of 22q11 genes in embryonic and adult forebrain||Lamantia, Anthony||University of North Carolina at Chapel Hill|
|Role of excitation and inhibition in Rett syndrome||Chao, Hsiao-Tuan||Baylor College of Medicine|
|Role of neuroligins in long-term plasticity at excitatory and inhibitory synapses||Engelman, Holly||Albert Einstein College of Medicine of Yeshiva University|
|Sex differences in early brain development: Brain development in Turner syndrome||Santelli, Rebecca Knickmeyer||University of North Carolina at Chapel Hill|
|Synaptic analysis of neuroligin 1 function||Fuccillo, Marc||Stanford University|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||Morris, Jill||Children's Memorial Hospital, Chicago|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||J. David Gladstone Institutes|
|The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development||Williams, Megan||University of California, San Diego|
|Translation regulation in hippocampal LTP and LTD||Klann, Eric||New York University|
|TrkB agonist(s), a potential therapy for autism spectrum disorders||Sun, Yi||University of California, Los Angeles|
|Visual system connectivity in a high-risk model of autism||Sahin, Mustafa||Children's Hospital Boston|
|White matter connections of the face processing network in children and adults||Yoon, Jennifer||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.