A Wake Forest Baptist Medical Center researcher has been awarded a two-year, $426,250 grant by the National Institute of Diabetes and Digestive and Kidney Diseases, part of the National Institutes of Health (NIH), to study a rare hereditary kidney disorder.
Anthony J. Bleyer, M.D., professor of nephrology at Wake Forest Baptist, will use the funds to investigate what genetic factors are associated with the rate of progression of uromodulin kidney disease (UKD).
Patients who have UKD develop kidney failure because of a genetic mutation that causes an abnormal buildup of uromodulin, a protein that is produced in the kidneys and ordinarily excreted in urine. However, the age that people with UKD develop end-stage kidney failure varies greatly, with some requiring dialysis or a transplant in their 30s while others have proper kidney function into their 70s or beyond.
“Our preliminary studies identified a small genetic change that we believe affects the age of kidney failure, and we intend to study this in individuals who have UKD,” Bleyer said. “If our earlier results hold up in this study, it will point to a therapy that we could use to treat this disease.”
Bleyer and his team will collect blood samples from people who have the disease for the study, which is the first major investigation of UKD to receive NIH support.
Marguerite Beck: firstname.lastname@example.org, 336-716-2415