Re-Sequencing Gene Chip to Diagnose Genetic Mutations Related to Liver Disease
Background
- In 2004, there were 5,000 liver transplants in adults and 500 in children.
– 53% of pediatric liver transplantation is due to cholestasis of the liver.
– In children 6-11 years, 1 in 500 will develop a form of liver disease.
– In children 12-19, 1 in 250 children will develop a form of liver disease. - Neonatal severe liver disease occurs in about 1 in 2,500 live births with cholestasis being a main cause.
- The broad array of causes of cholestasis (genetic, metabolic, inflammatory, and drug- or toxin-induced disorders) creates a challenge for physicians to diagnose a specific disease. Therefore, the treatment of affected children is not disease-specific and aimed at optimizing care to help reduce liver transplantations.
- Due to lack of effective medical therapies, liver transplantation has become the standard treatment for end-stage, as well as fulminant, liver disease in children.
- A considerable number of adult liver disease cases begin in childhood. Some of the liver diseases of adults (example: gallstones, cholestasis of pregnancy) share genetic basis with some of the liver diseases in children.
- Chronic liver disease is one of the most expensive digestive diseases, costing roughly $1.6 Billion annually.
- The availability of a single test that diagnoses the genetic mutations of liver disease will facilitate diagnostic algorithms and implementation of specific treatments.
Description of Current Technology
There is a significant unmet need for a non-invasive means for accurate diagnosis, staging and grading of liver diseases. Early diagnosis will help to elucidate the causes of these diseases and to develop practical means of treatment and prevention. Dr. Jorge Bezerra at Cincinnati Children's Research Foundation (CCRF), has assembled a diagnostic gene chip that can be used in early diagnosis of liver disorders. Termed the "JAUNDICE CHIP", this technology is a re-sequencing chip that allows for full DNA sequencing of specifically identified genes involved in liver disease. Furthermore, the detection of mutations will be possible by hybridizing these chips with DNA isolated from blood samples from patients with liver disease. This "JAUNDICE CHIP", fills a technology gap and a clinical need by offering a unique opportunity to simultaneously screen for mutations in the most common genes causing pathologic jaundice and other forms of liver disease in children and adults.
Objective
It is believed that this technology will be a breakthrough in early diagnosis of specific subsets of liver disease. CCRF is currently seeking a corporate partner to collaborate in proof of concept studies, preferably under an option agreement and/or to enter into a license agreement for the commercial development of a diagnostic testing platform utilizing this technology.
Contact
For further details and to arrange for receipt of confidential information, please contact:
Joseph D. Fondacaro, PhD
Director, Office of Intellectual Property & Venture Development
Cincinnati Children's Research Foundation
Mail Location 7032
3333 Burnet Avenue
Cincinnati, OH 45229-3039
Phone: 513-636-7695
Fax: 513-636-8453
Email: jdfonda@cchmc.org
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