UAB Childhood Cystic Kidney Disease Core Center (UAB-CCKDCC) - Therapeutic Development and Screening Resource

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ABSTRACT (CORE D) It is the goal of the UAB-Childhood Cystic Kidney Disease Core Center (CCKDCC) to work with the other U54 PKD Centers (RTCC), under the direction of the U24 Coordinating Center Site (U24-CCS) to reduce obstacles in cystic kidney disease research leading to more rapid translational studies by PKD Consortium Members and ultimately to the development of novel therapeutics. The UAB-CCKDCC has assembled a multidisciplinary team of researchers to carry out these goals and actively recruit new and established investigators to the field. The Center will help address the limitations associated with the small CCKD patient population available at individual intuitions by providing access to clinical data and biomaterial from human CCKD patients from across the Americas. The Center will focus on the development of resources to analyze cilio-cystic disease protein function, localization, and interactions. The Center will generate and provide researchers with patient relevant models of CCKD and establish methodology to utilize these models to ascertain the efficacy of candidate therapies to slow disease progression using a standardized, cost-effective, and longitudinal imaging strategy. The resources provided by the CCKDCC will help address several of the most significant hurdles slowing the development of therapeutic approaches and strategically recruit new scientists into the field. The Therapeutics Development and Screening Core (Core D) will coordinate efforts with other U54-PKD Centers, under the direction of the U24-CCS and NIDDK to become a shared national resource facility in which a PKD Consortium member can rapidly evaluate the ability of a candidate therapeutic drug to reverse alterations in pathways commonly associated with CCKD gene mutations and to prevent cyst initiation and expansion and renal function loss. This centralized resource is designed to accelerate discovery research in CCKDs in partnership with the UAB-CCKDCC In vitro and In vivo Bioassay and Model Development Resources (Cores B and C). Integration of these resources with clinical and genetic data and biological specimens from patients with CCKDs, as well as the US node of ADPedKD (a multicenter observational study of childhood ADPKD) compiled by the Clinical, Translational, and Biorepository Resource (Core A) will directly inform the development of new, targeted interventional strategies for patients with CCKDs.