Diagnosing the Unknown for Care and Advancing Science (DUCAS)

项目总结 在我们目前的医疗体系中，罕见的疾病和罕见的患者往往需要数年时间才能 常见情况的陈述会得到诊断。2013年，美国国立卫生研究院支持 创建未诊断疾病网络，以满足这些患者的需求，以促进 对那些有未诊断疾病的人的诊断过程，并产生关于潜在疾病的新知识 疾病的机制。UDN成功地解决了医学谜团，缩短了诊断时间 奥德赛，并为生物医学研究发现做出贡献。为了服务更多的患者，UDN进程 必须扩大规模并整合到更广泛的医疗和研究生态系统中。作为数据管理 协调中心(DMCC)哈佛医学院将建立卓越诊断中心网络 利用UDN方面的经验创建可持续的、全国性的基础设施以支持诊断， 研究，并照顾那些未确诊的人。这将通过将专家召集到 跨机构数据共享、数据分析、临床护理、生物信息学、新诊断和翻译 研究和创建三个DMCC核心-管理、数据管理和临床研究支持- 以解决未确诊患者未得到满足的需求。行政核心将统一DMCC和支持 所有三个核心的活动。DMCC核心将共同实现四个目标：1)扩大UDN吞吐量 至少一个数量级，以满足紧迫的国家需求，2)利用伙伴关系实现可持续 协调诊断流程以增加患者自主权，同时促进 调查科学，3)最大限度地提高数据移动性、可解释性和共享性，以及4)提供分析 通过由领导的数据管理核心和临床研究支持核心提供服务和数据管理 基因组学和人工智能领域的专家与临床医生和研究人员合作。

PROJECT SUMMARY In our current healthcare system, it often takes years before patients with rare conditions and rare presentations of common conditions receive a diagnosis. In 2013, the National Institutes of Health supported the creation of the Undiagnosed Diseases Network (UDN) to address the needs of these patients, to facilitate the diagnostic process for those with undiagnosed conditions and generate new knowledge about underlying mechanisms of disease. The UDN was successful in solving medical mysteries, shortening diagnostic odysseys, and contributing to biomedical research discovery. In order to serve more patients, the UDN process must be scaled and integrated into broader healthcare and research ecosystems. As the Data Management Coordinating Center (DMCC) for a network of Diagnostic Centers of Excellence, Harvard Medical School will leverage experience in the UDN to create sustainable, nationally scaled infrastructure to support diagnosis, research, and care for those who are undiagnosed. This will be accomplished by bringing together experts in trans-institutional data sharing, data analysis, clinical care, bioinformatics, novel diagnostics, and translational research and creating three DMCC Cores - Administrative, Data Management, and Clinical Research Support - to address unmet needs of the undiagnosed. The Administrative Core will unite the DMCC and support activities of all three Cores. Together, the DMCC Cores will accomplish four aims: 1) Scale up UDN throughput by at least an order of magnitude to meet a pressing national need, 2) Leverage partnerships for sustainable coordination of diagnostic processes to increase patient autonomy while advancing opportunities for investigative science, 3) Maximize data mobility, interpretability, and shareability, and 4) Provide analytic service and data stewardship through the Data Management Core and Clinical Research Support Cores led by experts in genomics and AI teaming with clinicians and researchers.