New Genomic Method Helps Diagnose Patients with Unexplained Kidney Disease

Kidney failure poses a significant threat to life if not adequately treated, yet precise diagnosis often eludes patients, leaving them uncertain about the best treatment approach. Now, a groundbreaking advancement by scientists has led to the discovery of a new technique for examining genomic data that could offer an accurate diagnosis for those suffering from unexplained kidney failure.

Researchers from Newcastle University (Newcastle upon Tyne, UK) used data from the Genomics England 100,000 Genomes Project to establish a diagnosis for patients facing unexplained kidney failure. They discovered that certain segments of these patients' genomes were absent, as a result of which their conditions went undiagnosed with standard genetic analysis techniques. The researchers have now identified this missing gene and found the mutations within it, allowing them to classify this as NPHP1-related -related kidney failure.

For their study, the team reviewed the genetic sequencing data of 959 individuals with advanced kidney disease. They identified 11 patients with a deleted region genome, resulting in the total loss of a specific kidney gene, a factor that had previously gone unnoticed. This novel method was further applied to analyze the genomic data of 11,754 individuals, enabling the genetic diagnoses of 10 UK patients with unexplained deafness and blindness, conditions that had remained genetically unexplainable until now. The Newcastle team is extending their research to patient-derived cell lines to delve deeper into the disease process and explore potential therapeutic options.

“Our new genomic methods and their results has huge implications for the patients and families with kidney failure who were previously genetically unsolved,” said Professor John Sayer, Deputy Dean of Biosciences at Newcastle University. “What we are now able to do is give some patients a precise diagnosis, which allows their investigations, treatment and management to be tailored to their needs for the best possible outcomes.”

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