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

Project Title

Project Title

A stem cell based platform for identification of common defects in autism spectrum disorders

Principal Investigator

Principal Investigator

Nazor, Kristopher

Description

Description

Autism spectrum disorders (ASD) are the fastest growing neurodevelopmental disorders in the United States, affecting as many as one in 100 children. Despite the immense etiological heterogeneity in ASD, with more than 100 associated genetic mutations and variants, affected individuals have common behavioral manifestations that may arise due to perturbation of common neurodevelopmental processes. In the long term, identification of common cell- and molecular-level elements underlying the ASDs will require sampling of individuals throughout the spectrum, including both idiopathic cases and cases associated with a genetic abnormality. Of the known genetic causes of ASD, mutations in the FMR1 gene in fragile X syndrome are the most common. In fact, fragile X is the most common form of inherited mental retardation. This project aims to the study the causes of this disease using cutting edge stem cell technologies and state of the art molecular profiling techniques that provide a global view of gene activity and regulation in any given sample. With this approach, the research team hopes to identify genomic and developmental abnormalities associated with fragile X and potentially other forms of ASD.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

28000

Current Award Period

Current Award Period

2011-2013

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. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Project Link

Project Link

A stem cell based platform for identification of common defects in autism spectrum disorders (External web link)

Institution

Institution

Scripps Research Institute

State/Country

State/Country

California

Project Number

Project Number

7437

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

A stem cell based platform for identification of common defects in autism spectrum disorders | 0 | 2012 | 7437
A stem cell based platform for identification of common defects in autism spectrum disorders | 0 | 2013 | 7437

 
Back to Top