Method for Determining Asthma Susceptibility
Background
Approximately 5% of adults and 7-10% of children in the U.S. alone have asthma with 50% of these cases developing before the age of 10 and another 33% before the age of 40.
Asthma is the fourth leading cause of morbidity and the number one cause of childhood hospitalizations in the U.S. with 1.6 million emergency room visits and 10 million office visits per year. In 2002, asthma accounted for $14 billion in health care costs in the U.S. Asthma is a chronic inflammatory disorder and, in genetically susceptible individuals, inflammation leads to increased airway obstruction and responsiveness to a variety of stimuli, becoming more severe over time. It is clinically important to determine individuals that are susceptible to the disease at a young age and predict the severity of their disease over time. The pathogenesis of this disease remains unclear.Description
Several candidate genes and loci have been linked to asthma and atopy, including IL-4, HLA complex, FCERI$ , $ 2 adrenergic receptor and chromosomal regions such as the cytokine cluster on 5q 31-32, supporting the polygenic nature of these complex diseases. The present technology relates to the discovery that allelic variations in the IL-4 receptor gene that led to increased receptor signaling are genetic predictors of asthma. Moreover, these increased receptor-signaling mutations are also predictive of the severity of asthma in individuals having asthma. Dr. Gerjit Hershey of Cincinnati Children's Research Foundation has determined that a novel IL-4 receptor alpha chain (Il-4R ) allele on T2-helper cells, mast cells and basophils has been linked to susceptibility of atopy in humans. This allelic variation results from an adenine to guanine substitution at nucleotide 1902 of the IL-4 receptor cDNA, predicting a change from glutamine to arginine at position 576 in the cytoplasmic domain of the IL-4R . This new allele, termed the "R576" allelic variation, plays a role in the development of asthma. In addition, it has been determined that the presence of the R576 IL-4R allele impacts on the severity of asthma in affected patients; thus, the presence of this R576 allele correlates with the severity of asthma. Specifically, an individual homozygous for the R576 allele is at greater risk for severe asthma when compared to an individual who is either heterozygous for R576 allele or possesses wild-type IL-4 receptor gene. United States and foreign patent applications have been submitted. A patent application has been allowed.
Objective
Currently, there are no known genetic markers for severity of asthma. Thus, this discovery has significant therapeutic potential for arming physicians with the knowledge necessary to provide patients with an individualized and highly specific treatment regime. We are currently seeking a corporate partner as a licensee to develop this technology and market a genetic assay to determine the susceptibility and severity of asthma.
Contact
If you are interested in receiving further confidential information relative to this technology, contact:
Joseph D. Fondacaro, PhD
Director, Office of Intellectual Property & Venture Development
Cincinnati Children's Research Foundation
Mail Location 7032
3333 Burnet Avenue
Cincinnati, Ohio 45229-3039
Phone 513-636-7695
Fax 513-636-8453
Email jdfonda@cchmc.org
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