Coordinating Center for the Undiagnosed Disease Network Phase II

项目摘要 在寻求诊断的过程中，许多患者经历了无数的测试和程序，希望找到答案。 当这些诊断失败时，患者就处于不确定状态，面临着永远无法诊断的可能性。 了解他们症状的原因。发现诊断和其他患者受相同或相似的影响， 条件可以减少或消除这种不确定性，并结束诊断奥德赛。在我们目前的医疗保健中， 系统，可能需要数年的时间， 接受诊断--这是许多患者根本没有的时间。作为协调 哈佛医学院未诊断疾病网络中心（UDN）将支持整合 由8-10个临床站点和多个核心实验室组成的网络，努力提高诊断和护理水平 为患有未确诊疾病的患者提供帮助，并促进对其病因的研究。我们将通过 利用我们在管理多中心研究、跨机构数据 共享、数据管理和分析、生物信息学、生物统计学和转化研究。在这样做时，我们将 实现五个目标：（1）加强UDN核心运营流程，（2）在UDN范围内达成共识 对于评估和诊断方法，（3）在诊断评估之外跟踪UDN参与者，（4） 扩展应用于UDN数据的事务和分析智能，以及（5）集成更大的 科学和临床护理合作伙伴加入UDN。

PROJECT SUMMARY In pursuit of a diagnosis, many patients undergo countless tests and procedures in hopes of finding answers. When these fail to yield diagnoses, patients are left in a state of uncertainty, faced with the possibility of never knowing the cause of their symptoms. Finding a diagnosis and other patients affected with the same, or similar, condition can reduce or eliminate this uncertainty and end the diagnostic odyssey. In our current healthcare system, it can take years before patients with rare conditions and rare presentations of common conditions receive a diagnosis- an amount of time that many of these patients simply do not have. As the Coordinating Center for the Undiagnosed Diseases Network (UDN), Harvard Medical School will support the integrated network of 8-10 clinical sites and multiple core laboratories striving to improve the level of diagnosis and care for patients with undiagnosed conditions and facilitate research into their etiologies. We will do this by leveraging our collective expertise and experience in managing multi-site studies, trans-institutional data sharing, data curation and analysis, bioinformatics, biostatistics, and translational research. In so doing, we will accomplish five aims: (1) Enhance UDN core operational processes, (2) Develop consensus across the UDN for evaluation and diagnostic approaches, (3) Follow the UDN participant beyond the diagnostic evaluation, (4) Expand the transactional and analytical intelligence applied to UDN data, and (5) Integrate a larger set of scientific and clinical care partners into the UDN.