Coordinating Center for the Undiagnosed Diseases Network

描述（由申请人提供）：正如威廉·哈维所写：“大自然最习惯于公开展示她的秘密，而不是在她远离人迹罕至的道路上展示她的工作痕迹；通过对罕见疾病的仔细研究，我们全身心地投入到自然规律的发现中去，这是促进医学实践的最佳途径。”除了错过科学机会之外，那些未确诊疾病的人被边缘化，对健康、情感福祉、家庭生活和财务造成了巨大的人员损失。作为一个新的未确诊疾病网络的协调中心，哈佛医学院将支持美国国立卫生研究院的校内未确诊疾病项目的扩展，使其成为一个由5-7个额外的临床站点组成的协作、综合网络，其目标是为未确诊疾病患者的诊断和护理制定有效的协议。以及通过共享由该网络产生的高质量实验室和临床数据来推进未确诊疾病的研究。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、罕见疾病诊断和护理以及绩效评估方面的集体专业知识和经验，作为跨网络站点集成和协作研究社区的科学、组织和操作基础。通过这样做，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协调提供基础设施、支持、管理和科学领导；(2)建立基础设施，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，以支持对确诊和未确诊患者进行UDP评估后的护理转变；(4)执行和支持网络传播活动；(5)持续评估单个临床站点以及整个网络的绩效。

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.