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

Elucidation of the developmental role of JAKMIP1, an autism-susceptibility gene  

This is an individual National Research Service Award for pre-doctoral research training, which provides support for promising doctoral candidates who will be performing dissertation research and training in a scientific health-related field. A study examining the gene expression changes across two groups of autistic patients with known genetic causes versus healthy controls revealed Janus kinase and microtubule-interacting protein 1, JAKMIP1, as a gene that might be implicated in autism. JAKMIP1 is predominantly found in neurons and regulates the expression and possible transport of GABA receptors and GABAergic systems that are known to be abnormal in autism spectrum disorder ASD. This research will use a mouse model to follow how the expression of this protein changes during development to adulthood. The impact of removing the Jakmip1 protein will also be assessed. This study will shed light on the mechanism by which aberrant JAKMIP1 levels could result in autism and may further implicate JAKMIP1 as an autism-susceptibility gene. These discoveries will aid in pre-symptomatic diagnosis and early behavioral intervention for autistic children as well as the design of pharmaceuticals. Project Status
NEW

2009

Funder National Institutes of Health
Fiscal Year Funding $30,418.00
Project Number 1F31MH088083-01
Principal Investigator Bomar, Jamee
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 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.
Federal or Private? Federal
Institution University of California, Los Angeles
State/Country California
Web Link 1 Elucidation of the developmental role of JAKMIP1, an autism-susceptibility gene (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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