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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

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

Principal Investigator

Principal Investigator

Bomar, Jamee

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

30418

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

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.

Project Link

Project Link

Elucidation of the developmental role of JAKMIP1, an autism-susceptibility gene (External web link)

Institution

Institution

University of California, Los Angeles

State/Country

State/Country

California

Project Number

Project Number

1F31MH088083-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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