The understanding of the genetic drivers of chronic kidney disease risk has taken a major leap forward after researchers identified 35 kidney genes that predispose people to the disease.
The international study lead by University of Manchester scientists has the potential to accelerate the development of new diagnostic tests and treatments.
"Chronic kidney disease is known for its strong genetic component,” said lead researcher Professor Maciej Tomaszewski from The University of Manchester. "Our limited knowledge of its exact genetic mechanisms partly explains why progress in the development of new diagnostic tests and treatments of chronic kidney disease has been so slow.”
Researchers made their discovery by applying next-generation RNA sequencing to one of the largest human kidney collections. The team, based in Australia and the UK, recently published their results in Nature Communications.
“Unraveling the mysteries of which gene expressions are associated with the development of kidney disease has taken a significant step forward with this work,” said Dr. Frank Maddux, chief medical officer for Fresenius Medical Care North America. “These advances will help in the evolution of the field of nephrology in identifying people who are predisposed to kidney failure in an effort to prevent the progression of the disease."
Often called a silent killer, many people may have no idea they carry a gene that would lead to a higher chance of developing kidney disease. The ability to identify genes which code for molecules that lead to kidney disease allows researcher to foster the development of more targeted therapies.
In a recent Op-Ed in Stat, Dr. Maddux advocated for using genetic markers to reclassify kidney disease which he believes will help increase efforts to develop these more precise treatments.
“I want to see all kidney disease patients have a robust pipeline of innovative therapeutic alternatives and be aware of any trials referencing their specific condition,” said Dr. Maddux.
In a separate study published in the Proceedings of the National Academy of Sciences (PNAS), researchers at Newcastle University discovered a potential way to halt the progression of kidney disease in people with Joubert syndrome. For the first time, researchers used gene editing in a mouse model to trick cells into bypassing the faulty gene that causes kidney failure in this specific disease.
"We now know how we may be able to offer a therapy that corrects the gene mistake within kidney cells and prevent the development of genetic kidney disease,” said Professor John Sayer from the Institute of Genetic Medicine at Newcastle University.
While this exciting development may still be years away from an actual therapy for people with Joubert syndrome, it’s a perfect example of why these genetic markers are so critical for developing new targeted therapies using the latest gene editing techniques.
Insight: Translating Science into Practice: FMCNA is an Ecosystem that Drives Progress by Dr. Frank Maddux
Stat Op-ed: Kidney disease is a killer. More precise classification can help tame it by Dr. Frank Maddux
Insight: Personalized Nephrology by Len Usvyat