The Hepato/Renal Fibrocystic Diseases Translational Resource: Core A

肝/肾纤维囊性疾病转化资源：核心 A

基本信息

批准号：
9322319
负责人：
LISA MARIE GUAY-WOODFORD
金额：
$ 22.36万
依托单位：
UNIVERSITY OF ALABAMA AT BIRMINGHAM
依托单位国家：
美国
项目类别：
财政年份：
资助国家：
美国
起止时间：
至
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/9322319
关键词：
Advisory Committees Affect Americas Autosomal Recessive Polycystic Kidney Award Bar Codes Biliary Biocompatible Materials Biological Breast Fibrocystic Disease Characteristics Childhood Clinical Clinical Course of Disease Clinical Data Collaborations Collection Communities DNA DNA Sequence Alteration DNA sequencing Data Databases Development Diagnosis Diagnostic Disease Disease Progression Enrollment Family Foundations Funding Genes Genetic Genomics Genotype Geography Goals Health Insurance Portability and Accountability Act Human Informatics Intervention Kidney Kidney Diseases Knowledge Learning Link Liver Long-Term Survivors Medical Genetics Missense Mutation Modality Multimedia Mutation Neonatal Parents Participant Pathogenicity Pathologic Pathology Patients Perinatal mortality demographics Phenotype Quality Control Rare Diseases Research Research Personnel Resources Sampling Secure Specialized Center Specimen System Tissues Update Variant base biobank cohort design exome sequencing experimental study genetic information genetic resource genome sequencing human disease human tissue member next generation perinatal morbidity programs relational database repository tertiary care tissue resource tool

项目摘要

PROJECT SUMMARY Autosomal recessive polycystic kidney disease (ARPKD) and other hepato-renal fibrocystic diseases (HRFD) are relatively rare recessive disorders, but constitute an important set of childhood nephropathies. Rare disease research requires greater collaboration than the efforts in common diseases where patient resources are routinely available and large repositories can be built locally. For the HRFD, experimental studies would be well served by case accrual that coordinates collection of clinical data, bio-specimens (DNA and tissues) and mutational information. The centralization and sharing of clinical and genetic information, as well as bio-materials, can provide a critical impetus for more rapid progress by the research community. In this competitive renewal, we will continue to compile baseline and longitudinal clinical information in our HRFD Clinical Database; expand our bio-materials (DNA and tissue) repositories; and deploy new strategies to identify genetic mutations in ARPKD and other HFRD patients, including new tools to interpret PKHD1 missense variants. Clinical and genetic data, as well as patient bio-specimens, will be drawn from tertiary care centers throughout the Americas (North, Central, and South). Finally, we will utilize the learning management system established in our CTSA-funded program to establish a multi-modality resource for our expanding portfolio of HRFD-related educational information and tools. Our goal for this renewal application is to acquire a sufficient volume of clinical data, biological specimens, and genomic information in a centralized resource to accelerate discovery research in human HRFD and integrate the resulting data in an enabling platform for developing new, targeted interventional strategies, assessing genotype-phenotype correlations, and identifying new disease genes by our Investigator User Base, as well as other members of the research community.

项目摘要常染色体隐性多囊肾脏疾病（ARPKD）和其他肝肾脏纤维囊肿（HRFD）是相对罕见的隐性疾病，但构成了一组重要的儿童肾病。稀有疾病研究需要比患者的常见疾病所做的更大的合作通常可用资源，可以在本地建造大型存储库。对于HRFD，实验性案例应计的研究可以很好地提供研究，即协调临床数据的收集生物特异性（DNA）和组织）和突变信息。临床和遗传信息的集中化和共享以及生物材料，可以为研究界的更快进步提供关键的动力。在这种竞争性续约中，我们将继续在我们的中汇编基线和纵向临床信息 HRFD临床数据库；扩展我们的生物材料（DNA和组织）存储库；并部署新策略来确定ARPKD和其他HFRD患者的遗传突变，包括解释PKHD1的新工具错义变体。临床和遗传数据以及患者生物特异性将从第三级护理中汲取整个美洲（北部，中部和南部）的中心。最后，我们将利用学习管理在我们的CTSA资助计划中建立的系统，为我们的扩展建立多模式资源与HRFD相关的教育信息和工具的投资组合。我们对此续签应用的目标是获取足够的临床数据，生物学集中资源中的标本和基因组信息，以加速人类的发现研究 HRFD并将所得数据集成到一个有能力的平台中，以开发新的，有针对性的介入策略，评估基因型 - 表型相关性，并确定我们的研究者的新疾病基因用户群以及研究社区的其他成员。