Polycystic kidney disease (PKD) is genetic disorder caused by mutations in PKD1, PKD2 and PKHD1. PKD is an important cause of end stage renal disease and often requires renal transplantation or dialysis. Genetically engineered mouse models have been instrumental in unraveling key features of PKD pathogenesis. Accurate and predictive mouse models of PKD coupled with emerging knowledge of disease mechanisms has now positioned these valuable models to drive unprecedented advancement in the discovery and validation of new targeted therapies and new early diagnosis/disease progression biomarkers. An important obstacle in realizing these exciting possibilities is a need by investigators for support in choosing, acquiring, and appropriately using PKD mouse model resources. Over the past period of P30 support we have been active in supplying investigators with PKD mouse lines and the histopathologic support that has resulted in a number of high impact studies. For this renewal, the overall goal of Core C, the Mouse Models and Biobank Core, is to continue to facilitate translational research projects using PKD mouse models.
Our specific aims are: 1) to provide a live mouse bioresource for the PKD community consisting of widely used PKD models and models with complex genotypes; 2) to develop and make available 4 key mouse models that would be particularly useful for investigators for breeding mouse models and performing their own preclinical trials 3) to provide mouse model and pathology expertise as well as tissues to meet the local (including Core B and Core D) and national PKD research base needs; 4) to provide custom preclinical testing of candidate therapies developed by investigators for testing in appropriate PKD mouse models; and 5) to provide the PKD research base with access to a full range of transgenic services for creating and cryopreserving new mouse models for PKD research. In summary, Mouse models engineered to mirror relevant features of PKD provide a powerful tool for discovering new therapeutic approaches to treating PKD.
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