Center for Undiagnosed Diseases at Stanford

斯坦福大学未确诊疾病中心

• 批准号: 10879757
• 负责人: Jonathan Bernstein
• 金额: $ 30.9万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-21 至 2024-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10879757
• 关键词: Accelerated Executive Review; Adopted; Adoption; Basic Science; Caring; Clinic; Collaborations; Communication; Consent Forms; Country; DNA sequencing; Development; Diagnosis; Disease; Disparity population; Enrollment; Ensure; Evaluation; Fostering; Generations; Health system; Individual; Intervention; Learning; Machine Learning; Medical Records; Medicine; Methods; Modernization; Natural Language Processing; Participant; Patients; Peripheral Blood Mononuclear Cell; Phase; Policy Maker; Research; Research Activity; Resources; Scientist; Secure; Site; System; Travel; Underserved Population; Validation; Work; accurate diagnosis; clinical diagnosis; clinical research site; cohort; digital; disadvantaged background; epigenomic profiling; experience; follow-up; improved; induced pluripotent stem cell; innovation; metabolomics; multiple omics; participant enrollment; programs; recruit; remote consent; sample collection; social; tool; transcriptome sequencing; transcriptomic profiling

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.

摘要 未确诊疾病网络为患有未确诊疾病的患者提供了便利， 全国顶尖的临床医生和科学家UDN为疾病发现带来了尖端工具 和诊断给全国成千上万的人。全国民主联盟作出了重大努力， 通过扩大临床地点、改进方法以及与现有的 实践斯坦福大学医学部坚定地致力于继续为未确诊的 在斯坦福大学的疾病，并成功地应用通过研究活动所吸取的经验教训，以改善 照顾所有未确诊疾病的患者。我们提出了一项研究计划，将继续促进 及时、准确地诊断患有未确诊疾病的患者; 疾病机制;促进UDN内部的合作与协作，并鼓励参与 非UDN临床医生，科学家，政策制定者和资助者，以确保这种国家资源长期持续 在这个提议的期限之外。通过在斯坦福大学临床研究中心的经验，我们发现 预期有助于使历史上得不到充分服务的个人能够 参与并受益于网络的背景。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策略。我们还将采取措施， 通过使用自然语言处理工具加速审查数字医疗记录。