CORE--ARPKD CLINICAL AND GENETIC RESOURCE

核心--ARPKD临床及遗传资源

• 批准号: 7069750
• 负责人: Lisa M Guay-Woodford
• 金额: $ 13.75万
• 依托单位: UNIVERSITY OF ALABAMA AT BIRMINGHAM
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-09-30 至 2010-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7069750
• 关键词: autosomal recessive trait; biomedical facility; children; computer assisted instruction; educational resource design /development; gene mutation; genetic registry /resource /referral center; genotype; health education; human genetic material tag; interactive multimedia; molecular biology information system; patient /disease registry; patient oriented research; phenotype; polycystic kidney; young adult human (21-34)

Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a relatively rare disorder, occurring in approximately 1 in 20,000 live births. Therefore, no single Center has sufficient patients for adequately powered clinical studies, genetic investigations, and/or therapeutic trials. Building on the established North American ARPKD Database and our extensive experience with mutational analysis of recessive PKD genes, including PKHD1, the objective of this Core: the ARPKD Clinical and Genetic Resource is to develop a unique set of clinical, genetic, and educational resources for ARPKD. This objective will be implemented in three specific aims. AIM 1 - Leverage the established North American ARPKD Database to build a comprehensive Clinical Database that includes all patients who meet the inclusion criteria for ARPKD. AIM 2 - Genotype children with classic ARPKD, as well as unusual recessive PKD phenotypes, for mutations in PKHD1 and/or the human orthologues of mouse recessive PKD genes and develop a Mutational Database. This Database will be capable of linking clinical and mutational information in a searchable format to facilitate genetic analyses (e.g. genotype-phenotype correlations, modifier gene studies), translational studies, and clinical trials. AIM 3 - Create a multi-media, web-based resource called "Understanding ARPKD". This Aim will address the paucity of reliable sources of information currently available to ARPKD families, their physicians, and genetic counselors. The distinctive feature of this Core is that it builds on clinical, genotyping, and educational programs already in place at UAB. Through the P30 mechanism, this Core will make these important resources available to the broader community of interested investigators, ARPKD families, and physicians/healthcare providers.

常染色体隐性多囊肾病（ARPKD；MIM 263200）是一种相对罕见的疾病，大约每 20,000 名活产儿中就有 1 人发生这种疾病。因此，没有一个中心拥有足够的患者进行足够有力的临床研究、基因研究和/或治疗试验。基于已建立的北美 ARPKD 数据库以及我们在隐性 PKD 基因（包括 PKHD1）突变分析方面的丰富经验， 该核心的目标：ARPKD 临床和遗传资源是为 ARPKD 开发一套独特的临床、遗传和教育资源。这一目标将通过三个具体目标来实现。目标 1 - 利用已建立的北美 ARPKD 数据库建立一个全面的临床数据库，其中包括所有符合 ARPKD 纳入标准的患者。 AIM 2 - 患有经典 ARPKD 以及异常隐性遗传的基因型儿童 PKD 表型，用于 PKHD1 和/或小鼠隐性 PKD 基因的人类直系同源物的突变，并开发突变数据库。该数据库将能够以可搜索的格式链接临床和突变信息，以促进遗传分析（例如基因型-表型相关性、修饰基因研究）、转化研究和临床试验。目标 3 - 创建一个名为“Understanding ARPKD”的多媒体网络资源。该目标将解决 ARPKD 家庭、他们的医生和遗传咨询师目前缺乏可靠信息来源的问题。该核心的显着特点是它建立在阿拉巴马大学已有的临床、基因分型和教育项目的基础上。通过P30机制，该核心将把这些重要资源提供给更广泛的社区 感兴趣的研究人员、 ARPKD 家庭和医生/医疗保健提供者。