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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

Characterizing 22q11.2 abnormalities

Principal Investigator

Principal Investigator

Schultz, Robert

Description

Description

Duplication of a small region on chromosome 22, resulting in 22q11.2 duplication syndrome, has been associated with autism, but to date there has not been a large-scale cohort study of this association. Deletion of the identical region, which results in 22q11.2 deletion syndrome, formerly known as DiGeorge syndrome, is also linked to an elevated rate of autism and psychosis, as well as a wide range of birth defects. Children with the duplication have a lower rate of all of these birth defects and no psychosis. Robert Schultz and his colleagues plan to study children with 22q11.2 duplication syndrome, using the largest cohort of such children at any one center, the 22q and You Center at the Children’s Hospital of Philadelphia. The researchers plan to evaluate how children with 22q11.2 duplication syndrome compare phenotypically with typically developing children, and with those who have 22q11.2 deletion syndrome or idiopathic autism (autism of unknown cause). In addition, the team plans to evaluate children with atypical deletions or duplications within the 22q11.2 region to narrow in on the regions related to autism. Typically, children with 22q11.2 deletion or duplication syndromes have genetic alterations that affect the same set of about 45 genes. A small proportion of patients, however, have smaller deletions or duplications involving only a subset of these genes. The 22q and You Center serves dozens of people with smaller atypical deletions or duplications within the 22q11.2 region. By evaluating a large number of individuals, the team hopes to narrow down the list of genes that may influence social and cognitive development in children with 22q11.2 abnormalities.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

62498

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. 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

Characterizing 22q11.2 abnormalities (External web link)

Institution

Institution

Children's Hospital of Philadelphia

State/Country

State/Country

Pennsylvania

Project Number

Project Number

275687

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Characterizing 22q11.2 abnormalities | 124995 | 2014 | 275687
Characterizing 22q11.2 abnormalities | 62498 | 2013 | 275687

 
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