Coordinating Center for the Undiagnosed Diseases Network

项目摘要 正如威廉·哈维（William Harvey）所写的那样，“大自然没有任何地方比这里更习惯于公开展示她的秘密奥秘。 在一些情况下，她显示出她的工作痕迹，除了走过的道路;也没有更好的方法， 推进正确的医学实践，而不是让我们的头脑去发现自然的通常规律， 对罕见疾病病例的仔细调查。“除了错过科学机会， 边缘化的那些未确诊的条件要求一个巨大的人类代价的健康，情感 幸福、家庭生活和财务状况。作为一个新的未诊断疾病网络的协调中心， 哈佛医学院将支持扩大国立卫生研究院的校内 未诊断疾病计划整合成一个由5-7个额外的临床站点组成的协作综合网络， 目标是制定有效的协议，为诊断和护理的人与未确诊的条件， 并通过共享高质量的实验室和临床数据推进对未诊断疾病的研究 由网络产生。我们将通过利用我们在管理方面的集体专业知识和经验来做到这一点。 多地点研究、跨机构数据共享、数据分析、生物医学策展、诊断和护理 那些罕见的条件，和绩效考核，以作为科学的，组织的，和操作 在整个网络站点的综合和协作研究社区的基础。我们这样做 将实现五个目标：（1）提供基础设施，支持，策展，和科学的领导， 原则性地协调临床方案、数据标准、数据分析和质量改进实践 （2）创建基础设施，以识别和匹配患者和临床团队， 以及网络外的专业知识和资源;（3）建立内容和基础设施，以支持 对确诊和未确诊患者进行UDP评估后的护理;（4）执行和支持网络 传播活动;（5）不断评估各个临床站点的性能以及 网络作为一个整体

PROJECT SUMMARY As William Harvey wrote, "Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her working apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual laws of nature by careful investigation of cases of rarer forms of diseases." In addition to the missed scientific opportunity, marginalization of those with undiagnosed conditions exacts a tremendous human toll on health, emotional well-being, family life, and finances. As the Coordinating Center for a new Undiagnosed Diseases Network, Harvard Medical School will support the expansion of the National Institutes of Health's Intramural Undiagnosed Diseases Program into a collaborative, integrated network of 5-7 additional clinical sites with the goals of developing effective protocols for the diagnosis and care of people with undiagnosed conditions, as well as advancing the study of undiagnosed conditions by sharing high quality laboratory and clinical data generated by the network. We will do this by leveraging our collective expertise and experience in managing multi-site studies, trans-institutional data sharing, data analysis, biomedical curation, diagnosing and caring for those with rare conditions, and performance review to serve as the scientific, organizational, and operational foundations of the integrated and collaborative research community across the network sites. In so doing, we will accomplish five aims: (1) Provide the infrastructure, support, curation, and scientific leadership for the principled harmonization of clinical protocols, data standards, data analysis, and quality improvement practices throughout the network; (2) Create infrastructure to identify and match patients and clinical teams with intra- and extra-network expertise and resources; (3) Establish content and infrastructure to support transitions in care following UDP evaluation for diagnosed and undiagnosed patients; (4) Perform and support network dissemination activities; and (5) Continually evaluate the performance of individual clinical sites as well as the network as a whole.