Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Using induced pluripotent stem cells to identify cellular phenotypes of autism  

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. Project Status
ONGOING

2009

Funder National Institutes of Health
Fiscal Year Funding $800,000.00
Project Number 5DP1OD003889-02
Principal Investigator Dolmetsch, Ricardo
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! 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.
Federal or Private? Federal
Institution Stanford University
State/Country California
Web Link 1 Using induced pluripotent stem cells to identify cellular phenotypes of autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Using induced pluripotent stem cells to identify cellular phenotypes of autism | $800,000.00 | 2010 | 5DP1OD003889-03
Using induced pluripotent stem cells to identify cellular phenotypes of autism | $800,000.00 | 2008 | DP1OD003889-01