Some families develop kidney failure because of changes in a gene called MUC1, which causes a rare condition known as Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-MUC1). This condition runs in families and leads to dialysis or kidney transplantation. At present, there is no treatment to slow or stop the disease.

Diagnosis is particularly difficult because the genetic change lies in a part of the MUC1 gene that is very repetitive and cannot be read using standard genetic tests. This means many families remain undiagnosed, do not receive accurate information about their condition, and cannot access new clinical trials of treatments.

A promising new drug (BRD4780) has been developed that removes the faulty protein from kidney cells. Trials in people are expected soon, but to take part patients must first be diagnosed and recruited into well-organised research groups.

We are setting up a new specialist genetic test using advanced long-read sequencing, which can read the repetitive part of MUC1 in detail. The money we are requesting will pay for the laboratory consumables needed to run this test on patient samples. The wider research project, already funded by LifeArc, will then bring together patient medical records, family histories, and new methods to predict who is most likely to progress quickly to kidney failure.

By creating the first UK-wide group of patients with ADTKD-MUC1, this project will make sure that families have access to accurate diagnosis and are ready for clinical trials as soon as they begin. This investment will therefore give UK patients earlier access to new treatments, speed up diagnosis for future families, and provide hope in an area of medicine where no treatment has ever been available.