THE INTERNATIONAL SKELETAL DYSPLASIA REGISTRY

该项目是对骨骼发育不良的临床、遗传、形态、生化和分子特征的多学科研究。这项研究的目标包括确定这些疾病之间的临床和遗传异质性，了解生化、分子和发病机制 这些机制在每一个方面都起作用，最终改善临床护理和结果。该项目受益于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取得了很高的成果。这个 国际骨骼发育不良登记处是世界上最大的骨发育不良资料库/数据库，是研究骨软骨发育不良和骨骼发育不良的国际资源。这包括向全球范围内的转介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临床记录病例的材料来源。目前的五年续期从5/1/07至4/30/12。 锡达斯-西奈医学中心自1986年以来一直大力支持这一项目，提供实验室空间、办公空间、计算机和实验室设备，并为调查人员和从事该项目的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。 竞争性修订，让他们的网络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。 这项22个月的竞争性修订申请旨在加强和改进国际骨骼发育不良登记数据库(核心A)，该数据库被所有项目广泛使用。 以前对该计划项目的审查表明，该计划的核心是巨大的国际资源 重要性和潜力。它既具有诊断功能，又提供了稀有和有价值的研究组织来源。它的价值多年来得到了证明，但其潜力仍有待充分挖掘。需要对现有材料进行更简单的基于网络的描述。 改进，包括在线提交案件。改善个案呈交的一个明显原因是提高登记处的临床诊断功能；“登记处的临床效用是巨大的，但速度慢得不适当。更便捷的服务将大大提高个案呈交率，从 到目前为止，临床医生在捐赠者库中的代表性不足。 这项竞争性修订申请的总体目标是加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、研究潜力和能力，加快招募适当的研究对象，并创建一个在线骨骼数据库 发育不良诊断教学工具，为研究人员、临床医生和学生提供在线访问信息，从过去40年来研究的大量病例中提取典型骨骼发育不良病例的临床、放射和形态表现信息。它解决了每一条评论 审查小组提出的建议，以及改进方案项目的搜索和导航能力，以及开发面向公众的基于网络的诊断和教学工具。我们经常被要求咨询其他以疾病为基础的研究和临床试验小组，以了解如何设计一种遗传性疾病 注册表。这一新的基于网络的登记册的开发可以作为许多其他小组为其特定疾病利益开发类似登记册的模式，从而加快许多其他调查小组所做的工作。

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.