Coordinating Center for the Undiagnosed Diseases Network

描述(由申请者提供)：正如威廉·哈维所写：“没有什么地方比自然更习惯于公开地展示她的秘密奥秘，因为她展示了她在平凡的道路上工作的痕迹；也没有比通过仔细调查罕见疾病的病例来发现通常的自然法则更好的促进正当医学实践的方法。”除了错失了科学机会外，将那些患有未确诊疾病的人边缘化还会对健康、情感福祉、家庭生活和经济造成巨大的人类损失。作为新的未诊断疾病网络的协调中心，哈佛医学院将支持国家卫生研究院的壁内未诊断疾病计划扩展为一个由另外5-7个临床站点组成的协作、综合网络，目标是为患有未诊断疾病的人制定有效的诊断和护理方案，并通过共享该网络产生的高质量实验室和临床数据来促进对未诊断疾病的研究。我们将利用我们在管理多站点研究、跨机构数据共享、数据分析、生物医学管理、诊断和护理罕见疾病患者以及绩效审查方面的集体专业知识和经验，作为整个网络站点的集成和协作研究社区的科学、组织和操作基础。在此过程中，我们将实现五个目标：(1)为整个网络的临床方案、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、管理和科学领导；(2)创建基础设施，以识别和匹配具有网络内外专业知识和资源的患者和临床团队；(3)建立内容和基础设施，以支持UDP对确诊和未确诊患者进行评估后的护理过渡；(4)开展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表现。

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.