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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

Using induced pluripotent stem cells to identify cellular phenotypes of autism

Principal Investigator

Principal Investigator

Dolmetsch, Ricardo

Description

Description

The goal of this project is to identify the cell biological phenotypes that underlie autism and other psychiatric disorders, taking advantage of new developments in human stem cell technology. In this study, the researchers will harvest skin fibroblasts from patients with autism and reprogram these cells to generate induced pluripotent stem (iPS) cells, which will then be differentiated into neurons. Numerous cellular, biochemical, and genetic measures will be used to determine the biological "fingerprint" of these cell lines. Researchers will also determine whether deletion, duplication, or mutation of specific genes leads the phenotypes observed in the neurons from each patient. This approach allows the researchers to link the phenotype and genotype of patients with the cell biological defects that give rise to disease. Information learned in this study can be used to develop cell-based assays to both investigate the etiology of the disease and to find new treatments for these untreatable disorders.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

800000

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 2SG. Support five studies that associate specific genotypes with functional or structural phenotypes, including behavioral and medical phenotypes (e.g., nonverbal individuals with ASD and those with cognitive impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5 years.

Project Link

Project Link

Using induced pluripotent stem cells to identify cellular phenotypes of autism (External web link)

Institution

Institution

Stanford University

State/Country

State/Country

California

Project Number

Project Number

5DP1OD003889-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Using induced pluripotent stem cells to identify cellular phenotypes of autism | 800000 | 2010 | 5DP1OD003889-03
Using induced pluripotent stem cells to identify cellular phenotypes of autism | 800000 | 2008 | DP1OD003889-01

 
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