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

Patient iPS cells with copy number variations to model neuropsychiatric disorders  

Genetic variation studies on patients with autism and schizophrenia have demonstrated increased or reduced copies of small chromosomal regions containing up to 50 or more genes. To study the impact of these copy number variations (CNVs) requires access to patient neurons. The discovery that skin fibroblasts can be reprogrammed into stem cells provides a novel system to produce neurons to study these disorders. These induced Pluripotent Stem (iPS) cells are produced by transfer of 4 genes into fibroblasts. The long term goals of this project are: 1) to determine whether the iPS cell system can identify differences in neuron function in human ASD and schizophrenia patients and 2) to develop new chemical methods to generate human iPS cells with reduced or no genetic modifications. In the initial phase of this research, iPS cell lines will be made from ASD and schizophrenia subjects and parent controls. Creating iPS cell models of mental health disorders will allow researchers to correlate expression of candidate genes with neuronal function and identify how nerve cell function differs from normal. These cells will be used to safely test new treatments in the future. Project Status


Funder National Institutes of Health
Fiscal Year Funding $207,388.00
Current Award Period 2009-2011
Project Number 5R21MH087908-02
Principal Investigator Ellis, James
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 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.
Federal or Private? Federal
Institution The Hospital for Sick Children
State/Country Canada
Web Link 1 Patient iPS cells with copy number variations to model neuropsychiatric disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Patient iPS cells with copy number variations to model neuropsychiatric disorders | $210,546.00 | 2009 | 1R21MH087908-01