Chronic kidney disease (CKD) has no current cure, and existing treatments focus solely on slowing disease progression. Patients in advanced stages need dialysis or a kidney transplant, but the demand for transplants far outweighs the supply—leaving nearly 90,000 people in the U.S. on a transplant waiting list at any given time. Innovation is necessary to bridge that gap. Fortunately, a recent study from the Perelman School of Medicine at the University of Pennsylvania has identified over 1,000 genes as potential treatment targets. 

Published in Science, this research provides the most comprehensive genetic map of kidney function to date. By pinpointing genetic variants linked to kidney disease, the study findings open the door to improved diagnosis, prevention strategies, and personalized treatment options.*

Discovering Genetic Variants

One of the study’s major breakthroughs was identifying proximal tubule cells as a key site of disease-related genetic variants. Proximal tubule cells line the nephron (microscopic filtering unit) inside the kidney. These special cells are essential for:

• Removing waste, 
• Reabsorbing water and electrolytes (essential minerals like sodium and potassium), and 
• Regulating chemical and nutritional balances. 

When genetic disruptions occur in these cells, kidney function can decline. By analyzing thousands of kidney cells at the single-cell level, researchers gained insight into how specific genetic variants alter cell function, leading to disease.

“It’s critical to pinpoint which cells are truly relevant for disease,” said lead author Dr. Hongbo Liu. “By creating single-cell profiles of thousands of kidney cells, we were able to ‘zoom in’ and find how certain genetic variants disrupt the regulatory machinery in key kidney cell types.”

The researchers also identified more than 600 genes with two types of variants—one affecting protein structure and another influencing protein production. “That was a key breakthrough from this study,” Liu explained. “Having more than one variant type makes us strongly suspect the genes as causes of kidney disease.”

The Future of Precision Medicine in Kidney Care

These discoveries could directly influence clinical care. Some of the identified genes are already known to interact with FDA-approved drugs for other conditions. This raises the possibility of repurposing existing medications to slow or even reverse kidney disease.

Additionally, this study highlights the growing role of precision medicine. Instead of a one-size-fits-all approach, genetic insights could lead to highly personalized treatment plans. 

“While outcomes and symptoms from diseases are often very similar patient to patient, the more research we do into our bodies’ mechanisms and genes, the more we understand how unique and varied origins of diseases can be,” said co-senior author Dr. Katalin Susztak, professor of Renal-Electrolyte and Hypertension at Penn. “There is a strong likelihood that medicine will continue to become more personalized and tailored to each person.”

*University of Pennsylvania. (2025, February 10). New genetic map offers hope for more precise diagnosis and treatment of kidney disease. News-Medical Life Sciences. https://www.news-medical.net/news/20250210/New-genetic-map-offers-hope-for-more-precise-diagnosis-and-treatment-of-kidney-disease.aspx 

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