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

摘要(核心D) UAB-儿童囊性肾脏疾病核心中心(CCKDCC)的目标是与其他U54合作 在U24协调中心站点(U24-CCS)的指导下，PKD中心(RTCC)，以减少障碍 在囊性肾脏疾病研究中，导致PKD联盟成员和 最终导致了新疗法的发展。UAB-CCKDCC组建了一个多学科小组 为了实现这些目标，并积极招募新的和现有的研究人员到该领域工作。这个 中心将帮助解决与个人提供的CCKD患者人数较少相关的限制 通过提供对来自人类CCKD患者的临床数据和生物材料的访问，实现直观 美洲。该中心将专注于开发资源来分析纤毛囊性疾病蛋白的功能， 本地化和互动化。该中心将生成并为研究人员提供与患者相关的模型 CCKD并建立方法学来利用这些模型来确定候选疗法对减慢的疗效 使用标准化、经济实惠和纵向成像策略的疾病进展。资源 由CCKDCC提供的将有助于解决几个最重要的障碍，减缓 治疗方法，并战略性地招募新科学家进入该领域。 治疗开发和筛查核心(核心D)将与其他U54-PKD协调努力 在U24-CCS和NIDDK的指导下，成为共享的国家资源设施，其中 PKD联盟成员可以快速评估候选治疗药物逆转变化的能力 在通常与CCKD基因突变相关的途径中，并防止囊肿的启动和扩张 肾功能丧失。此集中式资源旨在加快CCKD中的发现研究 与UAB-CCKDCC在体外和体内的生物测定和模型开发资源(核心B)建立伙伴关系 和C)。将这些资源与临床和遗传数据以及来自慢性病患者的生物标本进行整合 CCKDS，以及ADPedKD(一项关于儿童ADPKD的多中心观察研究)的US节点汇编 临床、翻译和生物库资源(核心A)将直接为新的、 CCKDS患者的针对性干预策略。

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.