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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

Combining WGS from Utah high-risk pedigrees and SSC families

Principal Investigator

Principal Investigator

Coon, Hilary

Description

Description

Autism spectrum disorder (ASD) affects at least 1 child in 68, and imposes a huge psychological and economic burden on affected individuals, their families and society. While significant progress has been made in determining genetic risk factors for ASD, there remains a substantial amount of unidentified genetic change contributing to risk. Hilary Coon and Gabor Marth’s labs at the University of Utah will employ innovative genomic methods and analyses to assess two data resources for all types of genetic changes, including those that do not obviously affect the function of genes. The collaborative team from the Coon and Marth labs includes experts in autism genetics, bioinformatics and statistical genetics, and genomics. The approach the team will use involves newly developed genomic software that is at the leading edge of gene discovery. The group will assess whole-genome sequencing (WGS) data from 540 carefully assessed families in the Simons Simplex Collection (SSC); each of these families has data from an affected and unaffected sibling and both parents. The investigators will also study WGS data and other molecular data from unique, high-risk, large Utah pedigrees that are also carefully assessed. The Utah pedigrees will further magnify the ability to learn more about how genetic mutations occur in families, and will also reveal genetic changes that are hard to find in small nuclear families, as pedigrees show familial repetition of inherited risk factors. The detailed assessment of behaviors and medical conditions in both cohorts will allow the researchers to uncover associations with specific aspects of ASD (such as language onset or cognitive delay), or with associated psychiatric or medical conditions. Finally, the design may allow the discovery of genetic changes that are more frequent in unaffected siblings, which may reflect protective factors.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2015-2017

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

Combining WGS from Utah high-risk pedigrees and SSC families (External web link)

Institution

Institution

University of Utah

State/Country

State/Country

Utah

Project Number

Project Number

388196

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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