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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

Linking autism and congenital cerebellar malformations

Principal Investigator

Principal Investigator

Millen, Kathleen

Description

Description

Although clinically and genetically variable, there are several emerging themes as to the underlying causes of autism spectrum disorders (ASD). Post-mortem and magnetic resonance imaging (MRI) studies have identified a number of brain structures that are anatomically abnormal in autistic individuals, including the cerebellum. Dr. Millen's research group has identified a number of genes and chromosomal loci that cause abnormal development of the cerebellum. In this study, they will attempt to establish a link between ASD and genetically defined human cerebellar malformations, testing the hypothesis that genes causing these malformations also represent an important subset of genes that confer susceptibility to ASD. Using genetic information from individuals with ASDs, including large publicly available genetic datasets, they will search for variation in known human cerebellar malformation genes to determine whether mutations in these genes are associated with ASD. They will also examine whether people harboring known ASD-related genetic changes have cerebellar abnormalities that are visible by MRI brain imaging.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

60000

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

Linking autism and congenital cerebellar malformations (External web link)

Institution

Institution

University of Chicago

State/Country

State/Country

Illinois

Project Number

Project Number

3587

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Linking autism and congenital cerebellar malformations | 0 | 2012 | 3587

 
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