Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Linking autism and congenital cerebellar malformations  

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. Project Status


Funder Autism Speaks
Fiscal Year Funding $0.00
Current Award Period 2009-2010
Project Number 3587
Principal Investigator Millen, Kathleen
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Genetic Risk Factors
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.
Federal or Private? Private
Institution University of Chicago
State/Country Illinois
Web Link 1 Linking autism and congenital cerebellar malformations (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Linking autism and congenital cerebellar malformations | $60,000.00 | 2009 | 3587
Linking autism and congenital cerebellar malformations | $60,000.00 | 2008 | 3587
Linking autism and congenital cerebellar malformations | $60,000.00 | 2011 | 3587
Linking autism and congenital cerebellar malformations | $0.00 | 2012 | 3587