THE INTERNATIONAL SKELETAL DYSPLASIA REGISTRY

国际骨骼发育不良登记处

• 批准号: 8125466
• 负责人: DAVID L RIMOIN
• 金额: $ 20.91万
• 依托单位: CEDARS-SINAI MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-07-15 至 2012-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8125466
• 关键词: Access to Information; Address; Algorithms; Archives; Biochemical; Biological; Case Study; Characteristics; Clinical; Clinical Research; Clinical Trials Cooperative Group; Computers; Consult; Cost Sharing; Data; Databases; Development; Diagnostic; Disease; Dysostoses; Educational process of instructing; Equipment; Film; Funding; Genetic; Genetic Heterogeneity; Goals; Health Professional; Hereditary Disease; Histologic; Human Resources; International; Internet; Investigation; Laboratories; Magnetic Resonance Imaging; Manuals; Medical center; Modality; Modeling; Molecular; Mus; National Institute of Child Health and Human Development; Online Systems; Osteochondrodysplasias; Outcome; Paper; Pathogenesis; Phase; Published Comment; Registries; Research; Research Personnel; Research Project Grants; Resources; Services; Source; Students; Study Subject; Syndrome; System; Tissues; Ultrasonography; Wages; Work; base; case-based; clinical care; design; digital; direct application; improved; interest; migration; multidisciplinary; prenatal; programs; prototype; repository; skeletal dysplasia; tool; touchscreen; web interface

This Program Project is a multidisciplinary investigation into the clinical, genetic, morphologic, biochemical and molecular characteristics of skeletal dysplasias. The goals ofthis research include defining the clinical and genetic heterogeneity among these disorders, understanding the biochemical, molecular and pathogenetic mechanisms operative in each of them, ultimately improving clinical care and outcomes. This project has benefited from continuous funding by NICHD for over 40 years and has been highly productive in defining the clinical aspects ofthese syndromes, their pathogenesis and their biochemical and molecular bases. The International Skeletal Dysplasia Registry, the largest such repository/database in the worid, serves as an international resource for studying the osteochondrodysplasias and dysostoses. This includes providing diagnostic assistance to a woridwide group of referring health professionals and serving as a source of materials from clinically documented cases for a wide range of research projects directed toward understanding the biological basis of these conditions. The current five-year renewal extends from 5/1/07-4/30/12. Cedars-Sinai Medical Center has strongly supported this project since 1986 with the provision of laboratory space, office space, computers and laboratory equipment, and significant cost sharing for salary support of the investigators and personnel working on the project. They will further support the work proposed in this competitive revision by providing their web development team to immediately start designing and developing a phase 1 prototype to facilitate and validate the system requirements and design concept. This 22 month competitive revision application is directed toward the enhancement and improvement of the International Skeletal Dysplasia Registry Database (Core A) which is utilized extensively by all the projects. Previous reviews ofthis Program Project have stated, "The core is an international resource of immense importance and potential. It offers both a diagnostic function and a source of rare and valuable tissues for research. Its value has been proven over the years, but its potential is still yet to be fully tapped. \A^at is needed is easier web-based description of available materials." There are many aspects of Core A that need improvement, including online case submission. One obvious reason to improve case submission is to advance the clinical diagnostic aspect of the Registry's function;" The clinical utility of the Registry is immense but inappropriately slow. A more expedient service would greatly improve the case submission rate from clinicians so far underrepresented in the donor pool." The overall goals ofthis competitive revision application are directed toward the enhancement and improvement ofthe International Skeletal Dysplasia Registry Database to maximize its utility, research potential and ability to accelerate the recruitment of appropriate study subjects and to create an online skeletal dysplasia diagnostic teaching tool to provide research investigators, clinicians and students with online access to information on the clinical, radiographic and morphologic presentation of typical skeletal dysplasia cases derived from the vast archive of cases studied over the last 40 years. It addresses each of the comments raised by the review panel as well as improving the Program Project's search and navigation capabilities and developing a web based diagnostic and teaching tool available to the public. We are frequently requested to consult with other disease-based research and clinical trial groups on how to devise a genetic disorder registry. The development of this new web based registry can serve as a model for many other groups to develop similar registries for their own disease specific interests, accelerating the work done by many other groups of investigators.

该项目是一项多学科的研究，涉及骨骼发育不良的临床、遗传、形态学、生化和分子特征。本研究的目的包括明确这些疾病的临床和遗传异质性，了解这些疾病的生化、分子和发病机制， 机制在他们每个人中运作，最终改善临床护理和结果。该项目得益于NICHD 40多年来的持续资助，在确定这些综合征的临床方面、其发病机制及其生化和分子基础方面具有很高的生产力。的 国际骨软骨发育不良登记处是世界上最大的此类资料库/数据库，是研究骨软骨发育不良和骨发育不良的国际资源。这包括向世界范围内的转诊卫生专业人员提供诊断援助，并为旨在了解这些疾病的生物学基础的广泛研究项目提供来自临床记录病例的材料来源。目前的五年续约期为2007年5月1日至2012年4月30日。 自1986年以来，Cedars-Sinai医学中心一直大力支持该项目，提供实验室空间、办公空间、计算机和实验室设备，并为研究人员和项目工作人员的工资支持分担大量费用。他们将进一步支持本报告中提出的工作。 通过提供他们的网站开发团队立即开始设计和开发第一阶段原型，以促进和验证系统要求和设计概念，从而进行竞争性修订。 这个为期22个月的竞争性修订申请旨在增强和改进所有项目广泛使用的国际骨发育不良登记数据库（核心A）。 以前对该计划项目的评论指出，“核心是一个巨大的国际资源， 重要性和潜力。它既提供了诊断功能，又提供了用于研究的稀有和有价值的组织来源。多年来，它的价值已得到证明，但其潜力仍有待充分挖掘。需要的是更容易的基于网络的可用材料的描述。“核心A的许多方面需要 改进，包括在线提交案件。改善病例提交的一个明显原因是推进登记处功能的临床诊断方面;”登记处的临床用途是巨大的，但速度慢得不适当。一个更快捷的服务将大大提高案件提交率， 到目前为止，临床医生在捐赠者中的代表性不足。" 本竞争性修订申请的总体目标是增强和改进国际骨骼发育不良登记数据库，以最大限度地发挥其效用、研究潜力和加速招募适当研究受试者的能力，并创建一个在线骨骼 发育异常诊断教学工具，为研究人员，临床医生和学生提供在线访问信息的临床，放射学和形态学介绍的典型骨骼发育异常的情况下，从大量的档案研究的情况下，在过去的40年。它解决了每一个评论 该项目的主要目标是提高项目的搜索和导航能力，并开发一个可供公众使用的基于网络的诊断和教学工具。我们经常被要求与其他基于疾病的研究和临床试验小组就如何设计一种遗传性疾病进行磋商 注册表这种新的基于网络的登记研究的开发可以作为许多其他研究小组为自己的疾病特定利益开发类似登记研究的模型，加速许多其他研究小组的工作。