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

The genetic link between autism and structural cerebellar malformations  

In this research project Dr. Millen's fellow will test whether genes known to cause human cerebellar malformations also cause autism. The study will determine whether patients recruited for cerebellar malformations caused by specific genetic mutations meet the diagnostic criteria for autism. Patients recruited for their autism diagnosis and subsequently also diagnosed with a small posterior cerebellum will be examined for genetic mutations, namely changes in gene copy number at defined cerebellar malformation genes. Mice with mutations in these cerebellar malformation genes will also be analyzed for evidence of behavioral changes relevant to autism. Project Status
ONGOING

2010

Funder Autism Speaks
Fiscal Year Funding $0.00
Current Award Period 2008-2010
Project Number 2186
Principal Investigator Millen, Kathleen
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Subgroups/Biosignatures
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.
Federal or Private? Private
Institution University of Chicago
State/Country Illinois
Web Link 1 The genetic link between autism and structural cerebellar malformations (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects The genetic link between autism and structural cerebellar malformations | $31,750.00 | 2009 | 2186
The genetic link between autism and structural cerebellar malformations | $32,000.00 | 2008 | 2186