A Simple Genetic Test For Kidney Disease
Background:
The National Cancer Institute's 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 kidney disease.
Technology:
An estimated 13% of the USA population has chronic kidney
disease.The increased burden of chronic kidney disease (CKD) and
end-stage kidney diseases (ESKD) in populations of African
ancestry has been largely unexplained. The second and third
leading causes of end stage renal disease are due to hypertension
and glomerulopathies, mainly due to focal segmental
glomerulosclerosis (FSGS) and HIV infection. ESRD is 4-fold higher
in African Americans compared to their white counterparts.
Variations in a gene known as non-muscle myosin IIA (MYH9) are
associated 70-100% of the excess risk for hypertension-associated
ESRD (OR=2.2), idiopathic FSGS (OR=6-7), and HIV-associated
nephropathy (OR=7). MYH9 risk alleles are the strongest and
most frequent yet discovered for common diseases with risk allele
and haplotype frequencies of 60% in African Americans and 4% in
European Americans.
A simple genetic screening test for one or a few of the single
nucleotide polymorphisms will determine whether and individual is
at increased or decreased risk of these forms of kidney disease.
These variants are indicative of genetic risk for FSGS, collapsing
glomerulopathy, HIV-associated nephropathy, hypertensive kidney
disease, sickle cell nephropathy, lupus nephropathy, and possibly
other kidney diseases. Because the factors are very frequent, and
their effect on the risk of kidney disease very strong, these tests
will have extraordinarily high predictive power compared to
existing commercial tests for genetic risk of other common
diseases.
Further R&D Needed:
- Extend findings to other forms of kidney disease in order to
increase commercialization of this discovery
- Re-sequencing the gene to identify the causal allele
- Perform functional assays to determine how the causal allele
alters structure or expression
- Survey populations throughout the world to determine the global
distribution of the risk of SNPs and haplotypes
- Determine whether success of kidney allografts is affected by
MYH9 genotype of the kidney donor.
R&D Status: Early-stage, pre-clinical
development
IP Status: U.S. Provisional Application No.
61/024,863 filed 30 Jan 2008
Value Proposition: Ability to diagnose predisposition to
diseases that cause chronic kidney disease (CKD) and end-stage
kidney disease (ESKD)
Contact Information:
John D. Hewes, Ph.D.
NCI Technology Transfer Center
Tel: 301-435-3121
Email: hewesj@mail.nih.gov
Please reference advertisement #756
Revised 12/22/2008