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

Investigating the effects of chromosome 22q11.2 deletions  

One copy of 22q11.2, a large segment of chromosome 22 that includes many genes, is missing in 1 of every 4,000 individuals. This non-inherited genetic abnormality results in several physical abnormalities, most of which can be repaired surgically early in life. But the most pernicious deficits are cognitive, including severe learning disabilities and a high risk for mental illness. Maria Karayiorgou and colleagues at Columbia University have studied the neurobiology of this deletion for several years. Armed with an exciting new technology that allows researchers to produce neurons from a simple skin biopsy, they plan to embark on studies in which skin samples from individuals carrying this deletion and their healthy control siblings will be made into brain cells and then studied at a level of unprecedented resolution. These studies will afford a view into the brain that was not previously possible. The researchers have also created a mouse model carrying the equivalent of the human 22q11.2 deletion, and are planning to study neurons from this mouse model. These two methods should allow the researchers to draw firm conclusions about the changes in neuronsí activity and structure and in synapses - the junction between neurons - that result from the 22q11.2 deletion. The results could help explain the cognitive deficits and learning disabilities seen in children carrying this devastating deletion. The use of genetic mouse models may also help elucidate the neural circuit malfunctions that underlie schizophrenia and similar diseases, such as autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $150,000.00
Current Award Period 2010-2013
Project Number 178110
Principal Investigator Karayiorgou, Maria
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.
Federal or Private? Private
Institution Columbia University
State/Country New York
Web Link 1 Investigating the effects of chromosome 22q11.2 deletions (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Investigating the effects of chromosome 22q11.2 deletions | $300,000.00 | 2011 | 178110
Investigating the effects of chromosome 22q11.2 deletions | $300,000.00 | 2012 | 178110