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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

Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia

Principal Investigator

Principal Investigator

Goldstein, David

Description

Description

Schizophrenia is a highly heritable neuropsychiatric condition that affects millions of individuals in the U.S. alone. Recent analyses of structural genetic variation have identified and rapidly confirmed a number of rare variants contributing to this disorder. Surprisingly, the same rare genetic contributors have often been found to be risk factors for multiple neuropsychiatric conditions, including autism, mental retardation, and epilepsy. This suggests that these rare variants may confer a "neuropsychiatric vulnerability" and that the ultimate clinical manifestation depends on other genetic or environmental influences. This study further investigates the gene-environment basis of neuropsychiatric diseases by performing whole-genome sequencing in 100 schizophrenia patients to search for rare, highly penetrant associated genetic variants. Potentially associated genetic markers will be genotyped in affected and unaffected family members to determine their specificity for schizophrenia versus other neuropsychiatric conditions and to investigate genetic and environmental modifiers of their effects. This work could elucidate the molecular basis of schizophrenia, as well as other neuropsychiatric conditions like autism, and potentially indicate novel targets for psychiatric drugs.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

1671247

Current Award Period

Current Award Period

na

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. 3SC. Initiate efforts to expand existing large case-control and other studies to enhance capabilities for targeted gene – environment research by 2011. IACC Recommended Budget: $27,800,000 over 5 years.

Project Link

Project Link

Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia (External web link)

Institution

Institution

Duke University

State/Country

State/Country

North Carolina

Project Number

Project Number

1RC2MH089915-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia | 1461725 | 2010 | 5RC2MH089915-02

 
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