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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Cell type-specific profiling for autism spectrum disorders

Principal Investigator

Principal Investigator

Sims, Peter

Description

Description

Genetic alterations in the tuberous sclerosis complex (TSC) genes, key mediators of protein synthesis, are strongly associated with autism spectrum disorders. Peter Sims and his colleagues at Columbia University Medical Center have developed a novel strategy for cell-type-specific profiling of protein synthesis in the brain, combining ribosome profiling with computational tools. The researchers used this profiling strategy to study mice with genetic alterations in TSC and found that global upregulation of protein synthesis occurs in specific cell types in the brain. In addition, they discovered a set of genes that exhibit an unusually high increase in the efficiency of protein synthesis in the mutant mice. This set of genes is enriched in transcription factors, which modulate RNA expression. This suggests a mechanism by which the regulation of protein synthesis can produce a defined program of gene expression at the RNA level.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2012-2013

Strategic Plan Question

Strategic Plan Question

Question 4: Which Treatments And Interventions Will Help?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.

Project Link

Project Link

Cell type-specific profiling for autism spectrum disorders (External web link)

Institution

Institution

Columbia University

State/Country

State/Country

New York

Project Number

Project Number

265394

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Cell type-specific profiling for autism spectrum disorders | 120000 | 2012 | 265394

 
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