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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

Rapid characterization of balanced genomic rearrangements contributing to autism

Principal Investigator

Principal Investigator

Talkowski, Michael

Description

Description

This is an Individual National Research Service Award, which provides postdoctoral research training to individuals to broaden their scientific background and extend their potential for research in specified health-related areas. The heritability of ASD and related neurodevelopmental disorders is high, but contributing genetic risk factors remain uncertain. This project aims to gain a better understanding of the impact of genomic rearrangements on neurodevelopmental abnormalities. The studies proposed will use "next- generation" sequencing to identify genes disrupted by apparently balanced rearrangements. Precise breakpoints in ASD patients with known genomic rearrangements will be mapped, then a comprehensive molecular analysis of disrupted gene(s) and pathways will be conducted. Finally, a large independent cohort of patients diagnosed with ASD and other disorders will be screened to identify consistent rearrangements and/or novel rare mutations.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

53459

Current Award Period

Current Award Period

2009-2012

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.

Project Link

Project Link

Rapid characterization of balanced genomic rearrangements contributing to autism (External web link)

Institution

Institution

Massachusetts General Hospital

State/Country

State/Country

Massachusetts

Project Number

Project Number

5F32MH087123-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Rapid characterization of balanced genomic rearrangements contributing to autism | 53942 | 2012 | 5F32MH087123-03

 
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