Whole Genome Sequencing to uncover the mutational landscape of cystic kidney diseases

Cystic kidney disease patients with identical genetic mutations can have vastly different outcomes—and no one knows why. This project will sequence the entire genomes of kidney cyst tissue and blood samples from patients with cystic kidney diseases (CyKD), searching for hidden genetic variants that explain this variability. While mutations in the PKD1 and PKD2 genes are known causes, they do not account for the full range of disease severity. The researchers will also compare these findings with genetic data from Von Hippel-Lindau (VHL) disease, another condition that produces kidney cysts and raises cancer risk, to identify shared and distinct molecular mechanisms. If successful, the work could uncover new genetic drivers of cyst formation and progression—essentially mapping the sequence of events that turns a healthy kidney cell into a cyst. This would open the door to more personalised treatment strategies, where therapies are tailored to a patient’s specific genetic profile rather than applied broadly. The project is fundamental science: it aims to understand the underlying biology of cyst development, not to test a drug or device. But similar genomic studies in cancer have already transformed diagnostics and treatment, and this research could do the same for kidney disease.