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

摘要（核心D） UAB儿童囊性肾病核心中心（CCKDCC）的目标是与其他U54合作， PKD中心（RTCC），在U24协调中心网站（U24-CCS）的指导下，以减少障碍 在囊性肾病研究中，PKD联盟成员进行了更快速的转化研究， 最终发展出新的治疗方法。UAB-CCKDCC组建了一个多学科团队 研究人员执行这些目标，并积极招募新的和已建立的研究人员到外地。的 研究中心将帮助解决与个体研究中CCKD患者人群较少相关的局限性。 通过提供对来自世界各地的人类CCKD患者的临床数据和生物材料的访问， 美洲.该中心将重点开发资源，分析纤毛囊病蛋白的功能， 定位和互动。该中心将生成并为研究人员提供与患者相关的模型， CCKD和建立方法，利用这些模型，以确定候选疗法的疗效，以减缓 使用标准化的、具有成本效益的和纵向的成像策略来评估疾病进展。的资源 由CCKDCC提供的将有助于解决几个最重要的障碍，减缓发展， 治疗方法，并战略性地招募新的科学家进入该领域。 治疗药物开发和筛选核心（核心D）将与其他U54-PKD协调工作 中心，在U24-CCS和NIDDK的指导下，成为一个共享的国家资源设施， PKD联盟成员可以快速评估候选治疗药物逆转改变的能力， 在通常与CCKD基因突变相关的途径中， 肾功能丧失此集中资源旨在加速CCKD中的发现研究， 与UAB-CCKDCC体外和体内生物测定和模型开发资源（核心B）合作 和C）。这些资源与临床和遗传数据以及来自患有 CCKD，以及ADPedKD（一项儿童ADPKD的多中心观察性研究）的美国节点 由临床，转化和生物储存资源（核心A）将直接告知新的， CCKD患者的靶向干预策略。

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.