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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

Role of the 16p11.2 CNV in autism: genetic, cognitive and synaptic/circuit analyses

Principal Investigator

Principal Investigator

Daly, Mark

Description

Description

16p11.2 duplication or deletion are among the most common, high-impact risk factors for autism spectrum disorders (ASDs). However, phenotypic variability among individuals with the same 16p11.2 genetic risk factor is wide — including all outcomes from profoundly autistic to essentially unaffected individuals. The purpose of this project is to examine the distribution of additional genetic risk factors for ASDs in the presence of CNVs at 16p11.2, using two parallel tracks of inquiry. The first, genomewide analysis, will be approached genetically through common and rare variant burden analyses, and phenotypically by examining familiality and gender patterning. Second, a focused regional analysis will examine whether variation in the intact chromosome is relevant in deletion carriers. Collectively, these analyses will improve understanding of the mechanisms through which 16p11.2 CNVs create risk for ASDs and, more broadly, the manner in which different types of genetic risk for ASD may behave in concert across the genome.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2013-2016

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. 2SG. Support five studies that associate specific genotypes with functional or structural phenotypes, including behavioral and medical phenotypes (e.g., nonverbal individuals with ASD and those with cognitive impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5 years.

Project Link

Project Link

Role of the 16p11.2 CNV in autism: genetic, cognitive and synaptic/circuit analyses (External web link)

Institution

Institution

Broad Institute, Inc.

State/Country

State/Country

Massachusetts

Project Number

Project Number

319332

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Role of the 16p11.2 CNV in autism: genetic, cognitive and synaptic/circuit analyses | 300850 | 2014 | 319332
Role of the 16p11.2 CNV in autism: genetic, cognitive and synaptic/circuit analyses | 0 | 2013 | 319332

 
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