Grant: Master's Award: Canada Graduate Scholarships

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent genetic diseases with an incidence of 1 in 500 to 1000. Until now, no cure for this disease exists. Individuals affected by severe ADPKD are at a great disadvantage: only palliative treatments such as hemodialysis and kidney transplantation are available for renal failure. Understanding the molecular aspects of ADPKD may have important implications for patients suffering from this disease or other types of renal cystic disease. Enormous benefits would be gained from studying the phenomena leading to ADPKD in order to prevent its development or delay its progression. Our laboratory is studying the role of the gene and the protein as well as the mechanisms that regulate PKD1, the gene mutated in 85-90% of human ADPKD cases reported. Toward this aim, I will use the murine system as an in vivo model of investigation, since my laboratory has recently generated novel Pkd1 mouse models that can reproduce the typical renal histopathologic features of human ADPKD. Characterization of these mouse models will provide crucial insight into the progression and the pathophysiology of ADPKD. Importantly, these mouse models will allow me to define the molecular pathogenic signaling pathway. The study and comprehension of these phenomena will make it possible to develop therapeutic approaches for mouse ADPKD which will pave the way to eventual therapy amenable to the human disease.