|Project Title||Principal Investigator||Institution|
|Chromatin alterations in Rett syndrome||Akbarian, Schahram||University of Massachusetts Medical School|
|Elucidation of the developmental role of JAKMIP1, an autism-susceptibility gene||Bomar, Jamee||University of California, Los Angeles|
|Genetic and developmental analyses of fragile X syndrome||Broadie, Kendal||Vanderbilt University|
|Role of excitation and inhibition in Rett syndrome||Chao, Hsiao-Tuan||Baylor College of Medicine|
|Molecular basis of autism associated with human adenylosuccinate lyase gene defects||Colman, Roberta||University of Delaware|
|Face processing and brain function associated with autistic symptoms in fragile X||Dalton, Kim||University of Wisconsin - Madison|
|Role of neuroligins in long-term plasticity at excitatory and inhibitory synapses||Engelman, Holly||Albert Einstein College of Medicine of Yeshiva University|
|Neuroligin regulation of central GABAergic synapses||Fu, Zhanyan||Duke University|
|Synaptic analysis of neuroligin 1 function||Fuccillo, Marc||Stanford University|
|BDNF and the restoration of spine plasticity with autism spectrum disorders||Gall, Christine||University of California, Irvine|
|Mouse models of the neuropathology of tuberous sclerosis complex||Gambello, Michael||University of Texas Health Science Center at Houston|
|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|
|Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome (supplement)||Gibson, Jay||University of Texas Southwestern Medical Center|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|High content screens of neuronal development for autism research||Halpain, Shelley||University of California, San Diego|
|A longitudinal MRI study of brain development in fragile X syndrome||Hazlett, Heather Cody||University of North Carolina at Chapel Hill|
|Genetics and physiology of social anxiety in fragile X||Hessl, David||University of California, Davis|
|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|
|Cell type-based genomics of developmental plasticity in cortical GABA interneurons||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Coordinated control of synapse development by autism-linked genes||Huber, Kimberly||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|
|An adult brain-specific mouse model of neuronal TSC inactivation||Kelleher, Raymond||Massachusetts General Hospital|
|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.