Microarray-Based Diagnosis of Pediatric Hearing Impairment-Construction of a Deafness Gene Chip
Background
- Congenital hearing loss represents one of the most common birth defects in the United States with the prevalence of permanent congenital hearing loss at approximately 1.2 per 1000 live births.
- Nearly 80% of the infant hearing loss cases (approximately 40,000 children) are sensorineural, involving defects in the detection of sound in the inner ear and/or the transmission of the neural signal to the brain.
- 50% of all cases of sensorineural hearing loss in children have a genetic origin.
- Hearing loss in infants can go undetected for months after birth, with the current national average age of children at the time of identification of hearing loss being at 2.5 years!
- With special education cost estimates for late-identified hearing impaired children ranging from $38,000 to $220,000 over a K-12 education, total societal costs for such an individual approaches $1 million.
- Early, accurate and specific genetic testing will enable precise diagnoses for identification of children where early intervention will provide critical benefit and optimal treatment opportunities.
Description
Dr. John Greinwald and his team of researchers at the Cincinnati Children's Research Foundation have demonstrated that diagnostic gene chip arrays can be used in pediatric screening for hearing loss. The gene chip uses microarray technology, developed within the past decade, to provide rapid and accurate means for analyzing nucleic acid samples. Microarray technology provides a means to test for the genetic causes of current and potential future hearing loss in infants. The resulting diagnostic test can be used to allow early intervention of hearing loss in infants. A patent application for the genetic design of the variation detection array has been submitted. It is estimated that approximately 40,000 children are born with sensorineural hearing loss and 80% are candidates for the microarray screening. We intend to capture 25% of these U.S. cases (8000) through diagnostic screens, with patient charges approximately $1000 - $1200/each. Initial costs would allow at least a 50% margin and are amenable to significant cost reductions and broadened array of diseases.
Objective
We are currently seeking a corporate partner to provide funding for proof of concept studies, preferably under an option agreement and/or to enter into a license agreement for the commercial development of a meaningful diagnostic testing platform utilizing this technology.Contact
To receive further confidential information to assist in evaluating this opportunity, please contact:
Joseph D. Fondacaro, PhD
Director, 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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