Coordinating Center for the Undiagnosed Diseases Network

正如威廉·哈维（William Harvey）所写的那样，“大自然在任何地方都不习惯公开展示她的秘密奥秘，而不是在她显示出她在人迹罕至的道路之外工作的痕迹的情况下;也没有更好的方法来推进医学的正确实践，而不是通过仔细调查罕见疾病的病例来发现自然的通常规律。“除了错过科学机会之外，那些患有未确诊疾病的人的边缘化对健康，情感幸福，家庭生活和财务造成了巨大的人类损失。作为新的未诊断疾病网络的协调中心，哈佛医学院将支持将美国国立卫生研究院的校内未诊断疾病项目扩展为一个由5-7个额外临床站点组成的协作综合网络，目标是为诊断和护理患有未诊断疾病的人制定有效的协议，以及通过共享网络生成的高质量实验室和临床数据来推进对未确诊疾病的研究。我们将通过利用我们在管理多中心研究，跨机构数据共享，数据分析，生物医学策展，诊断和护理罕见疾病以及绩效评估方面的集体专业知识和经验来实现这一目标，以作为整个网络站点的综合和协作研究社区的科学，组织和运营基础。通过这样做，我们将实现五个目标：（1）为整个网络中临床协议、数据标准、数据分析和质量改进实践的原则性协调提供基础设施、支持、策展和科学领导;（2）创建基础设施，以识别和匹配患者和临床团队与网络内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评估后的护理过渡;（4）执行和支持网络传播活动;以及（5）持续评估各个临床站点以及整个网络的性能。

DESCRIPTION (provided by applicant): 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 protocol 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.