Center for Undiagnosed Diseases at Stanford

摘要 未诊断疾病网络(UDN)为患有未诊断疾病的患者提供便利 全国顶尖的临床医生和科学家。UDN带来了用于疾病发现的尖端工具 并向全国数以千计的人提供诊断。UDN已经做出了实质性的努力来改进 通过扩展临床站点、改进方法以及与现有的集成实现可持续性 练习。斯坦福医学坚定地致力于继续发展未确诊疾病中心 并成功地应用从研究活动中学到的经验教训来改善 照顾所有未确诊疾病的患者。我们提出了一个学习计划，将继续促进 对未确诊疾病的患者进行及时、准确的诊断；推进对潜在疾病的研究 疾病机制；并促进统一数字网络内部的合作和协作，并鼓励参与 非UDN临床医生、科学家、政策制定者和资助者，以确保这一国家资源长期持续 超出这项提议的期限。通过在斯坦福临床网站的经验，我们已经确定 预计将有助于使历史上未得到充分服务的个人 参与该网络并从中受益的背景。通过这一补充，我们将部署和 评估远程同意和样本采集的新战略。我们还将采取措施， 通过使用自然语言处理工具，加快数字病历审查。

ABSTRACT The Undiagnosed Diseases Network (UDN) has facilitated access for patients with undiagnosed diseases to the nation's leading clinicians and scientists. The UDN has brought cutting edge tools for disease discovery and diagnosis to thousands of individuals across the country. UDN has made substantial efforts to improve sustainability through the expansion of clinical sites, refinement of methods, and integration with existing practices. Stanford Medicine has a strong commitment to the continuation of the Center for Undiagnosed Diseases at Stanford, and has successfully applied lessons learned through research activities to improve the care for all patients with undiagnosed diseases. We propose a program of study that will continue to facilitate timely, accurate diagnosis of patients with undiagnosed diseases; advance research into underlying mechanisms of disease; and foster cooperation and collaboration within the UDN and encourage engagement of non-UDN clinicians, scientists, policy-makers, and funders to ensure this national resource is sustained long beyond the duration of this proposal. Through experience at the Stanford Clinical Site we have identified specific interventions that are expected to be helpful in enabling individuals of historically underserved backgrounds to participate in and benefit from the Network. Through this supplement we will deploy and evaluate new strategies for remote consent and sample collection. We will additionally adopt methods to accelerate the review of digital medical records through the use of natural language processing tools.