Understanding the pathogenesis of cystinuria

Kidney stones are a common urinary tract problem. They can cause obstructions in the urinary system and are a significant risk factor for the development of chronic kidney disease. Current treatments for stones focus on removing the stones, often with multiple invasive procedures. However, there is a lack of understanding of why stones reoccur and why individuals with stones are at increased risk of developing chronic disease. Therefore, there is a clear need for novel approaches to prevent stone recurrence and its harmful consequences. We have developed a personalised mouse model that mimics the exact point mutations found in humans with the rare genetic kidney stone disease termed cystinuria. This project aims to improve our understanding of how cystinuria develops and to test novel treatments. This translational project involves in vivo modelling of a rare disease with personalised mouse models, micro CT imaging and collaboration with industry.