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A Simple Genetic Test for Kidney Disease

Posted Jun 02 2010 5:00pm

Description of Invention:
This technology relates to methods of diagnosing a predisposition to diseases that cause chronic kidney disease (CKD) and end-stage kidney disease (ESKD). Variations in a gene, non-muscle myosin IIA (MYH9), are associated with 79% of the risk of focal segmental glomerulosclerosis (FSGS), the disease that causes ESKD, in African Americans with HIV, and 56% of African Americans as a whole. The variants are also associated with a 2-3 fold increased risk for end stage kidney disease (ESKD) associated with hypertension. The variations are also present among European Americans, however they are less common.

A simple genetic screening test has been developed that identifies single nucleotide polymorphisms (SNP) and haplotypes in the non-muscle myosin gene MYH9. These variants confer genetic risk for the following kidney diseases: FSGS, collapsing glomerulopathy, HIV-associated nephropathy, hypertensive kidney disease, sickle cell nephropathy, lupus nephropathy, and possibly other kidney diseases.

  • Facilitate rigorous population (i.e. all individuals) screening for early kidney disease.
  • Screen individuals with hypertension, to identify individual who might benefit from more intensive therapy.
  • Screen kidney donors for MYH9 risk alleles to improve renal allograft survival.
  • Screen patients with sickle cell disease to identify those at increased risk for CKD.
  • Screen patients with lupus nephritis to identify those at increase risk for CKD.
  • Screen patients with HIV-1 infection to identify those at increased risk for kidney disease.
  • Screen patient with other kidney diseases, including idiopathic and secondary kidney disease, where MYH9 mutations may alter the propensity to develop kidney disease or the rate of progressive renal function decline.
  • Pharmaceutical agents might be developed that reverse the susceptibility phenotype, reducing propensity to CKD. These agents might alter non-muscle myosin IIA function or its interactions with critical molecular partners.

Development Status:
Early-stage development for clinical applications, including diagnostic testing and therapeutic intervention.

Cheryl A Winkler (NCI)
Jeffrey B Kopp (NIDDK)
Michael W Smith (NCI)
George W Nelson (NCI)
Randall C Johnson (NCI)

Patent Status:
HHS, Reference No. E-090-2008/2
PCT, Application No. PCT/US2009/032754 filed 30 Jan 2009

Relevant Publication:
  1. JB Kopp et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet. 2008 Oct;40(10):1175-1184. [ PubMed abs ]

Licensing Status:
Available for licensing.

Collaborative Research Opportunity:
The National Cancer Institute, Laboratory of Genomic Diversity, is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize genetic testing for MYH9. Please contact John D. Hewes, Ph.D. at 301-435-3121 or for more information.

Internal Medicine
Internal Medicine - Diagnostics

For Additional Information Please Contact:
Steven Standley Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-4074
Fax: 301-402-0220

Ref No: 1841

Updated: 06/2010

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