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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 study Phelan McDermid Syndrome

Principal Investigator

Principal Investigator

Shcheglovitov, Oleksandr

Description

Description

Phelan-McDermid Syndrome (PMDS) is a progressive neurodevelopmental disorder, characterized by hypotonia, global developmental delay, severely impaired to absent speech, intellectual disability, and autism spectrum disorders (ASDs). PMDS is a genetic disorder caused by the micro deletions in the pretelomeric region of chromosome 22.  The goal of this project is to identify cellular and molecular abnormalities associated with neurological defects in patients with PMDS and ASDs. As starting material we use skin cells collected from PMDS patients. We reprogram skin cells into induced pluripotent stem cells (iPSCs) (which are cells that have the potential to differentiate into several different types of cells,) and then iPSCs into neurons. Studying properties of iPSCs-derived neurons from patients and controls, we are aiming to find the original genetically-based source of the problems at cellular and molecular levels.  Results of this research will substantially advance our current understanding of neurobiology associated with PMDS and ASDs in humans, and the role of different genes in the development of specific cellular abnormalities. In addition, this project will provide valuable information on new therapeutic targets for future pharmacological intervention to reverse neurological defects in patients with PMDS and ASDs.

Funder

Funder

Autism Science 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

Using induced-pluripotent stem cells to study Phelan McDermid Syndrome (External web link)

Institution

Institution

Stanford University School of Medicine

State/Country

State/Country

California

Project Number

Project Number

n/a

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Using induced-pluripotent stem cells to study Phelan McDermid Syndrome | 40000 | 2012 | N/A

 
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