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Genetic Analysis Offers Diagnosis For Unexplained Kidney Failure –

Finding missing genes

The team analysed the genetic data of 959 patients with advanced kidney disease and found 11 patients who had a chunk of DNA missing that led to the complete loss of a kidney gene called NPHP1. The area in the genome that had this missing DNA was not picked up using the routine genetic analysis tools that are currently used, so these patients had previously been told that they had no genetic changes.

Although this condition can run in families, interestingly, the NPHP1 gene lies in a region of the genome that is also particularly susceptible to new genetic changes that appear for the first time in an individual rather than being passed down from their parents.

John said: “Our new genomic methods and their results have huge implications for the patients and families with kidney failure who were previously genetically unsolved. We are now able to give some patients a precise diagnosis, which allows their investigations, treatment and management to be tailored to their needs for the best possible outcomes.”

“We hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth investigating the underlying reasons for kidney failure to get to the bottom of the condition.” Professor John Sayer

The team are now using cell lines to gain a deeper understanding of the disease process and to test potential new treatments.