Vanderbilt Center for Undiagnosed Diseases (VCUD)

项目总结 未诊断疾病(UD)是一系列可以看到的重要体征、症状和/或测试结果 随着时间的推移，专家在没有发现其原因的情况下对其进行了诊断程序和测试(S) 筋疲力尽了。未诊断疾病网络(UDN)的目标是诊断UDS并提供答案 这给了受折磨的人希望和改善他们健康的方法。我们的Vanderbilt UDN临床站点(VCUD) 是优秀的以病人为中心的护理和协作研究的理想环境。我们通过以下方式成立了VCUD 将独特的Vanderbilt资源与UDN资源相结合，以诊断困难的UDS。范德比尔特资源 包括：1)主办大型临床研究中心的生产性临床和翻译科学奖 (CRC)已经成长、发展和发展了一批杰出的临床医生和内科科学家，2) 一个由儿科医生、内科医生、神经学家和遗传学家、生物信息学专家组成的强大而敬业的团队， 4)BioVU DNA数据库和专家，5)结构生物学研究人员，6)我们的EMR和RedCap 数据库，以及7)高度重视教育和培训下一代谁将帮助维持统一数字网络 从长远来看。我们联合了我们的VCUD团队(医生、生物信息学专家、研究人员 科学家，研究协调员，NPS，GC)，拥有UDN资源，通过以下方式诊断UD患者：a) 收集和分析临床数据以形成鉴别诊断(临床假设)，B)分析下一步 生成测序和其他测试数据以形成可测试的基因假设，C)利用独特的VUMC 包括BioVU、PrediXcan和结构生物学的资源，以确定候选变体(CV)的优先顺序，D) 确定非编码CV、E)测试的功能效应并合并我们的临床和基因 使用VCUD工作室确定导致患者UD和F)的协调性疾病和CV的假设 发现新的疾病并促进转化研究以确定机制并导致 治疗。我们假设我们可以使用VCUD团队通过以下方式将患者护理与转化性研究相结合 将它们与不同的VUMC资源协同结合，以更有效地诊断和治疗UD 病人。我们的VCUD结构将提供测试我们的假设所需的工作流、吞吐量和激情 并提供诊断和治疗建议。我们会在第二阶段加强所有这些活动。 (UO1)通过与UDN、退伍军人管理局、精密医学合作进行扩张 项目和医疗保险公司，以产生一个不断发展和更可持续的模式。

PROJECT SUMMARY Undiagnosed Diseases (UD) are constellations of significant signs, symptoms and/or test results that are seen by specialists over time without discovery of their cause(s), and for which diagnostic procedures and tests have been exhausted. The goal of the Undiagnosed Disease Network (UDN) is to diagnose UDs and bring answers that give afflicted individuals hope and ways to improve their health. Our Vanderbilt UDN Clinical Site (VCUD) is an ideal milieu of excellent patient oriented care, and collaborative research. We formed the VCUD by combining unique Vanderbilt resources with UDN resources to diagnose difficult UDs. Vanderbilt resources include: 1) a productive Clinical and Translational Science Award that hosts a large Clinical Research Center (CRC) that has grown, evolved, and developed an outstanding cohort of clinicians and physician scientists, 2) a strong, dedicated group of Pediatricians, Internists, Neurologists and Geneticists, 3) bioinformatics experts, 4) the BioVU DNA databank and experts, 5) structural biology investigators, 6) our EMR and REDCap database, and 7) a strong focus on educating and training the next generation who will help sustain the UDN over the long-term. We have combined our VCUD team (physicians, bioinformatics experts, research scientists, Study Coordinator, NPs, GCs), with UDN resources to diagnose UD patients by the following: A) gathering and analyzing clinical data to form differential diagnoses (clinical hypotheses), B) analyzing next generation sequencing and other test data to form testable gene hypotheses, C) utilizing unique VUMC resources including BioVU, PrediXcan, and Structural Biology to prioritize candidate variants (CV), D) determining the functional effects of non-coding CV, E) testing and merging our clinical and genetic hypotheses to identify concordant disorders and CV that cause the patients’ UD, and F) using VCUD Studios to discover new diseases and promote translational research to determine mechanisms and lead to treatments. We hypothesize that we can use VCUD teams to merge patient care with translational research by synergistically combining them with distinct VUMC resources to more efficiently diagnose and treat UD patients. Our VCUD structure will provide the workflow, throughput, and passion needed to test our hypotheses and diagnose and provide treatment recommendations. We will enhance all these activities in the Phase II (UO1) expansion through collaborations with the UDN, the Veteran’s Administration, Precision Medicine Projects and health care insurers, to produce an evolving and more sustainable model.