Approved Research

Identification of shared genetic disorders of kidney stones and chronic kidney disease

Lay summary

Our research is aimed at identifying and understanding the shared genetic causes of kidney stones and chronic kidney disease, as well as clarify the causal link between them. We intend to use data from the UKBB to identify specific genes or variants associated with both diseases, with a focus on tubule-specific pathogenic genetic disorders. We also plan to look at phenotypes associated with specific genes/pathways disorders. By identifying novel genetic causes of disease,we intend to both better understand the basic processes involved in causing kidney stones and to potentially provide new genetic diagnoses with the ultimate goal of providing precision medicine in nephrology. Our study will help early identification of individuals with a high risk of developing kidney stones and chronic kidney disease, as well as clarify the causal link between kidney stones and chronic kidney disease. We intend for this project to last for at least 3 years, but likely for the duration of our research program.