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

• 批准号: 9789913
• 负责人: Francis Sessions Cole
• 金额: $ 75万
• 依托单位: WASHINGTON 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 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9789913
• 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 Simulation; 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 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

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项目摘要 该应用的科学前提是， 在第一阶段开发的未诊断疾病网络（UDN）是可扩展的，它对患者的影响， 家庭和疾病发现可以通过在华盛顿添加临床部位来提高和维持 大学医学院（WUSM）。 WUSM代表一个完全的学术医疗中心 与世界知名的基础科学能力相结合，并在基因第一种方法中展示了专业知识 适用于无诊断疾病的患者。高度协作的临床和生物医学研究文化 WUSM通过机构基因组，临床，计算，促进部门内部和跨部门的相互作用 以及模型系统专家，以及在区域，国内和国际上与同事一起。这些相互作用 支持招募，选择，评估，诊断，诊断发现以及儿科和成年患者的随访 通过已建立的网络和个人转介的疾病未诊断。在此基础设施的基础上建立 WUSM教职员工将在诊断和管理疾病中取得成功 首先使用，使用，完善和改进在I阶段I期间设计的未诊断的患者 UDN每年对30名未经诊断的患者进行全面，及时的临床评估。其次，我们 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 基因分型，表型和环境暴露的记录，并促进综合和 整个UDN的合作社区以及实验室和临床研究人员的重点 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 疾病。第三，WUSM UDN临床站点将提出一项生物信息学计划，以利用机构 基础设施和专业知识，以开发创新策略来改善致病性变异的发现。 第四，评估，传播，外展和培训计划将加速评估和 传播数据，协议，同意材料和方法，教育和外展的可用性 参与者，临床医生和其他研究人员的材料，代表人数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，教职员工和教师培训 奖励基础设施。最后，WUSM将做出明确的机构承诺，以维持其临床 网站，以适应UDN I阶段实践的可持续性实践，以促进可持续国家的形成 UDN资源，并适应一次可能出现的独特需求和意外情况 共同的基金支持在2022财政年度结束。