Ron Korstanje at JAX is seeking genetic clues to slowing the progress of end-stage renal disease in patients with Alport syndrome and other kidney diseases.
People with a genetic disease called Alport syndrome experience kidney failure, or end-stage renal disease (ESRD), requiring dialysis or a kidney transplant to survive. But Alport patients are far from alone: One in three Americans is at risk for ESRD, and that number is predicted to increase due to a growing aging and diabetic population (the two largest risk factors).
A Jackson Laboratory research team led by Associate Professor has received a four-year grant totaling $1,495,766 from the National Institute of Diabetes and Digestive and Kidney Disease to study the genetics of Alport syndrome in search of modifier genes that affect the age of onset and severity of the disease.
“Our studies will lead to a better understanding of the initiation and progression of the disease process in general,” Korstanje says, “and will help to reveal novel therapeutic targets to combat ESRD in patients with Alport syndrome as well as patients with other forms of kidney disease.”
Identification of Kidney Disease Modifier Genes in Mouse and Human Alport Syndrome, National Institute of Diabetes and Digestive and Kidney Diseases, Grant Number 1R01DK131019-01