|Project Title||Principal Investigator||Institution|
|Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo study||Reiss, Allan||Stanford University|
|Angelman syndrome (AS)||Percy, Alan||University of Alabama at Birmingham|
|A longitudinal MRI study of brain development in fragile X syndrome||Hazlett, Heather||University of North Carolina at Chapel Hill|
|Allelic choice in Rett syndrome||Donohoe, Mary||Winifred Masterson Burke Medical Research Institute|
|Activity-dependent phosphorylation of MeCP2||Ebert, Daniel||Harvard Medical School|
|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|
|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.