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Philadelphia, PA – A groundbreaking study conducted by researchers at the Perelman School of Medicine at the University of Pennsylvania has identified more than 1,000 genes that could serve as potential treatment targets for kidney disease. The study, recently published in Science, represents the most comprehensive genetic map of kidney function to date, paving the way for improved diagnostics, prevention strategies, and treatment approaches for kidney disease.
The research team also introduced a new tool, the “Kidney Disease Genetic Scorecard,” which allows doctors to assess a patient’s kidney disease risk based on specific genes and variants. This advancement could lead to more personalized treatment plans tailored to an individual’s genetic profile.
A Major Breakthrough in Kidney Disease Research
“Kidney dysfunction is a major global health issue, and our findings shed new light on the specific genes and biological pathways that underlie disease risk,” said Dr. Katalin Susztak, co-senior author of the study and leader of the Penn/CHOP Kidney Innovation Center.
To achieve these results, the researchers analyzed nearly 1,000 human kidney samples and studied hundreds of thousands of kidney cells individually. This approach allowed them to identify key genetic variants linked to kidney disease and gain a clearer understanding of disease mechanisms.
The Growing Burden of Kidney Disease
Chronic kidney disease (CKD) affects approximately 10% of the world’s population, with cases on the rise. Currently, there is no cure for CKD, and available treatments only slow disease progression. Patients with advanced CKD often require dialysis or kidney transplantation. According to the United Network for Organ Sharing (UNOS), around 90,000 people in the U.S. are waiting for a kidney transplant, and 13 individuals die each day while waiting for a donor organ.
Identifying Key Genetic Risk Factors
The study found that proximal tubule cells, which play a crucial role in kidney function, are particularly affected by disease-causing variants. These cells are responsible for reabsorbing water and electrolytes and secreting essential compounds. Disruptions in these processes can contribute to kidney disease.
“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,” explained Dr. Hongbo Liu, the study’s first author and a research assistant professor at the University of Rochester.
The researchers also identified more than 600 genes with two types of genetic variants—those affecting protein coding and those influencing protein production levels. Genes with both variant types are considered strong candidates for further study as potential kidney disease causes.
The Future of Kidney Disease Treatment
These discoveries have significant implications for future treatments. Some FDA-approved drugs used for other conditions target genes highlighted in the study. Researchers suggest that repurposing or modifying these drugs could potentially slow kidney disease progression or even repair damaged kidneys.
Beyond treatment, the study underscores the growing role of precision medicine in healthcare. “The more research we conduct on our genetic makeup, the clearer it becomes that diseases have unique origins in each patient. This will help shape more personalized and effective treatment strategies in the future,” said Dr. Susztak.
Disclaimer
This article is based on findings from scientific research and should not be used as a substitute for professional medical advice. Individuals concerned about kidney disease should consult their healthcare provider for diagnosis and treatment options.
