(OVERALL) The overarching goal of the UAB-Childhood Cystic Kidney Disease Core Center (UAB-CCKDCC) is to work in partnership with the PKD Consortium, under the direction of the U24 Central Coordinating Site (U24-CCS) and NIDDK, to eliminate obstacles in cystic kidney disease related research that are hindering progress toward the development of improved and innovative treatment strategies for cystic kidney disorders. To accomplish this goal, the UAB-CCKDCC has assembled a multidisciplinary team of researchers and clinicians who will direct four tightly integrated resource and service-oriented Cores along with an Administrative Core. The collective mission of these Cores is to support, accelerate, and expand basic and translational research activities being performed by PKD Consortium members. The Center will focus on the development of resources to analyze cilio-cystic disease protein function, localization, and interactions and how defects in these functions contribute to the pathogenic mechanisms involved in cyst initiation and progression. The Center will complete its mission through providing ready access to clinical data and biomaterial from CCKD patients, through the development and distribution of patient-relevant cell and animal models of CCKD, and through the development of methodology to utilize these models to ascertain the efficacy of candidate therapies to slow disease progression using a standardized, cost-effective, and longitudinal imaging and analysis strategies. The services and resources being made available by the Center along with the integration between each of the Cores will expand research activities well beyond that capable in most individual laboratories and will accelerate the pace of research into causes and possible cures of cystic kidney diseases by providing for high quality, robust, and reproducible outcomes needed to prioritize drugs for future clinical trials.
(OVERALL) Childhood cystic kidney diseases (CCKDs), such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), Nephronophthisis (NPHP), and Meckel-Gruber Syndrome (MKS), are devastating disorders causing significant morbidity and mortality. While remarkable progress has been made in identifying genetic factors responsible for cyst pathogenesis, there remain large gaps in our knowledge as well as controversies regarding the function of the affected proteins and which of the associated pathways are at the etiological heart of these diseases. The mission of the UAB Childhood Cystic Kidney Disease Core Center (UAB-CCKDCC) is to work with the PKD Consortium and the Central Coordinating Site to develop and share cilia-related bioassay and reporter systems, relevant genetic models and biomaterials, and clinical data for CCKDs that will allow the research base to overcome significant obstacles and drive the translation of basic science discoveries into effective treatments.
