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Genetic test for heritable pediatric congenital malformations of the kidneys and urinary tract

Summary

Nearly half of all cases of pediatric renal failure can be traced to heritable abnormalities. These abnormalities are known as congenital malformations of the kidney and urinary tract (CAKUT), and include kidney hypoplasia and dysplasia, multi-cystic kidney dysplasia, posterior urethral valves, and ureter abnormalities. Additionally, they are frequently associated with co-morbidities such as hypertension and cardiovascular disease. CAKUT is thought to be caused by genetic mutations. However, attempts to identify the causative mutation have been unsuccessful or focus on a very small subset of patient populations. This technology has identified a loss-of-function mutation in patients with CAKUT that affects urinary tract development. It allows for diagnostic testing as well as genetic counseling for couples trying to conceive.

Technology Benefits

Identifies first gene mutation involved in the development of congenital malformations of the urinary tractProvides genetic basis for specific type of CAKUT abnormalitiesEnables research into the molecular mechanisms and development of urinary and renal developmentPatent Information:Patent Pending (WO/2014/169294)Patent Pending (US 20160040238)Tech Ventures Reference: IR CU13044

Technology Application

Antenatal testing for CAKUTPrenatal testing for CAKUTDiagnostic testing for CAKUTScreening tool for high-risk families and populationsResearch tool for studying congenital abnormalities of the urinary tractInvestigation of the role in DSTYK in other tissues, as both growth factor mediator and driverResearch tool for developing animal models of congenital malformations of the urinary tract

Detailed Technology Description

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*Abstract

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*Inquiry

Jerry KokoshkaColumbia Technology VenturesTel: (212) 854-8444Email: TechTransfer@columbia.edu

*IR

cu13044

*Principal Investigator

*Publications

S. Sanna-Cherchi, R.V. Sampogna, et al. "Mutations in DSTYK and Dominant Urinary Tract Malformations." New England Journal of Medicine, Vol. 369, Issue 7, August 2013.

Country/Region

USA