Washington University School of Medicine Undiagnosed Diseases Network Clinical Site

华盛顿大学医学院未确诊疾病网络临床站点

基本信息

批准号：
10206222
负责人：
PATRICIA I DICKSON
金额：
$ 55万
依托单位：
WASHINGTON UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-09-21 至 2023-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10206222
关键词：
Academic Medical Centers Accreditation Adult Animal Model Basic Science Bioinformatics Biological Biomedical Research Businesses Cells Child Childhood Classification Clinical Clinical Investigator Clinical Research Clinical Sciences Clinical and Translational Science Awards Collaborations Communities Computer Models Consent DNA Sequencing Facility Data Development Diagnosis Diagnostic Disease Disease Management Documentation Environmental Exposure Etiology Evaluation Expert Systems Faculty Family Family Physicians Functional disorder Funding Genes Genomics Genotype Geographic Locations Individual Infrastructure Institutes International Laboratories Methods Molecular Monitor Network-based Participant Pathogenicity Patient Care Patients Phase Phase I Clinical Trials Phenotype Process Protocols documentation Research Research Personnel Resources Review Committee Secure Societies Standardization Time Training Translational Research Underrepresented Minority Universities Variant Washington clinical practice clinical research site cost data dissemination data management data sharing deep learning design disease diagnosis exome sequencing experience follow-up genetic variant genome sequencing improved innovation medical schools medical specialties network models operation outreach recruit research clinical testing screening sequencing platform student training success transcriptome sequencing

项目摘要

1.0 PROJECT SUMMARY The scientific premise of this application is that the individualized translational research process of the Undiagnosed Diseases Network (UDN) developed during Phase I is scalable and that its impact on patients, families, and disease discovery can be advanced and sustained by addition of a Clinical Site at Washington University School of Medicine (WUSM). WUSM represents a large academic medical center that is fully integrated with world-renowned basic science capabilities and demonstrated expertise in a gene first approach for patients with undiagnosed diseases. The highly collaborative clinical and biomedical research culture at WUSM promotes interactions within and across Departments, with institutional genomic, clinical, computational, and model system experts, and with colleagues regionally, nationally, and internationally. These interactions support recruitment, selection, evaluation, diagnosis discovery, and follow up of pediatric and adult patients with undiagnosed diseases through both established networks and individual referrals. Building on this infrastructure, WUSM faculty and staff will advance the success of the UDN in diagnosing and managing disease in undiagnosed patients by, first, using, refining, and improving protocols designed during Phase I of the UDN for comprehensive, timely clinical evaluations of 30 undiagnosed patients annually. Secondly, we will collect, securely store, and share standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures and promote an integrated and collaborative community across the UDN and among laboratory and clinical investigators focused on defining the pathophysiology, cell biologic, and molecular mechanisms that cause these difficult to diagnose diseases. Thirdly, the WUSM UDN Clinical Site will propose a bioinformatics plan for leveraging institutional infrastructure and expertise to develop innovative strategies to improve discovery of pathogenic variants. Fourthly, the assessment, dissemination, outreach, and training plan will accelerate assessment and dissemination of data, protocols, consent materials, and methods, availability of educational and outreach materials for participants, clinicians, and other researchers, engagement of underrepresented minorities, and training for students, fellows, staff, and faculty in collaboration with WUSM’s Clinical and Translational Science Award infrastructure. Finally, WUSM will make a clear institutional commitment to maintain its Clinical Site, to adapt UDN Phase I practices for sustainability, to contribute to formation of a sustainable national UDN resource, and to adapt to unique needs and unexpected circumstances that may arise once Common Fund support ends in fiscal year 2022.

1.0 项目概要该应用的科学前提是个体化的转化研究过程在第一阶段开发的未诊断疾病网络（UDN）是可扩展的，并且它对患者的影响，通过在华盛顿增设临床中心，可以推进和维持家庭和疾病发现大学医学院 (WUSM) 是一个大型学术医疗中心。与世界知名的基础科学能力相结合，并在基因优先方法方面展示了专业知识针对未确诊疾病的患者，高度协作的临床和生物医学研究文化。 WUSM 促进部门内部和部门之间的互动，包括机构基因组、临床、计算、和模型系统专家，以及与区域、国家和国际同事的这些互动。支持儿科和成人患者的招募、选择、评估、诊断发现和随访在此基础设施的基础上，通过已建立的网络和个人转诊来诊断未确诊的疾病， WUSM 教职员工将推动 UDN 在诊断和管理疾病方面取得成功首先，通过使用、完善和改进第一阶段设计的方案来治疗未确诊的患者 UDN 每年对 30 名未确诊患者进行全面、及时的临床评估。将收集、安全存储和共享标准化、高质量的临床和实验室数据，包括环境暴露的基因分型、表型分析和记录，并促进综合和整个 UDN 以及实验室和临床研究人员之间的协作社区，重点关注定义导致这些难以诊断的病理生理学、细胞生物学和分子机制第三，WUSM UDN 临床站点将提出利用机构疾病的生物信息学计划。基础设施和专业知识来制定创新策略，以改善致病变异的发现。第四，评估、传播、推广和培训计划将加快评估和数据、协议、同意材料和方法的传播、教育和外展的可用性为参与者、牧师和其他研究人员提供的材料、代表性不足的少数群体的参与，以及与 WUSM 的临床和转化科学合作，为学生、研究员、教职员工和教员提供培训最后，WUSM 将做出明确的机构承诺以维持其临床。站点，以适应 UDN 第一阶段的可持续发展实践，为形成可持续的国家做出贡献 UDN资源，并适应独特的需求和一旦出现可能出现的意外情况共同基金支持将于 2022 财年结束。