Intermountain West Clinical Site for the Undiagnosed Disease Network (UDN), Phase 2

未确诊疾病网络 (UDN) 的西山间临床中心，第 2 期

• 批准号: 9789370
• 负责人: Lorenzo Davide Botto
• 金额: $ 75万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-20 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9789370
• 关键词: Adult; Age; Area; Binding Sites; Bioinformatics; Biological; Caring; Child; Childhood; Clinical; Clinical Assessment Tool; Clinical Research; Cognitive; Communities; Comprehensive Health Care; Computer software; Data; Data Analyses; Diagnosis; Diagnostic; Disease; Disease Pathway; Enrollment; Evaluation; Family; Funding; Future; Genealogy; Genes; Genetic; Genetic screening method; Genomics; Goals; Healthcare Systems; International; Laboratories; Link; Low income; Medical; Minority; Modeling; Native Americans; Outcome; Patient Care; Patient-Focused Outcomes; Patients; Phase; Population; Population Database; Pregnancy; Process; Program Sustainability; Protocols documentation; Rare Diseases; Resources; Rural; Site; Software Tools; Specimen Handling; Testing; Underserved Population; United States; United States National Institutes of Health; Universities; Utah; Variant; base; bioinformatics tool; clinical care; clinical phenotype; clinical research site; design; experience; follow-up; genetic pedigree; genome analysis; genomic tools; improved; innovation; medical specialties; operation; programs; recruit; research clinical testing; sample collection; scientific organization; tool

PROJECT SUMMARY/ABSTRACT We propose to establish an Intermountain West Clinical Site at the University of Utah for the Undiagnosed Disease Network. The proposed site will provide unprecedented access to a vast area across five states that encompasses ~10% of the Continental US. Its residents are among the most underserved in the United States; with rural, minority, and low-income groups historically `genetically underserved', including a large Native American population. To advance state-of-the-art diagnosis and management, we will leverage our successful pediatric Penelope program—our `innovation laboratory' and proof-of concept program for undiagnosed and rare diseases--to further develop and test processes, protocols, and tools for clinical assessment and care of people with undiagnosed diseases of all ages. Integrally connected to the clinical program, our bioinformatics team will bring to the UDN innovative bioinformatics tools to advance the power and the reach of genomic discovery. Our internationally recognized team has developed tools that integrate sequencing data with clinical and pedigree information (VAAST, GEMINI, RUFUS) to better find disease-causing variants. Importantly, some of these tools (IOBIO) are designed for clinicians without extensive bioinformatics background, to quicken the pace and expand the reach of state-of-the-art genetic testing beyond academic centers and into the community. To improve sustainability, we will refine and share our program's tools and care process models that integrate clinical and research workflows efficiently. In summary, the Intermountain West Clinical Site will bring the team, experience, resources, and institutional support to advance the shared goal of UDN – improve the diagnosis and management of difficult-to-diagnose and new diseases—efficiently, equitably, and sustainably.

项目摘要/摘要 我们建议在犹他大学建立一个未诊断的西部临床网站 疾病网络。拟议地 包括约10％的美国大陆。它的居民是美国最卑鄙的人之一。 历史上有艰难，少数和低收入群体“遗传上的贫乏”，其中包括一个大型本地人 美国人口。为了推进最新的诊断和管理，我们将利用我们的成功 儿科佩内洛普计划 - 我们的“创新实验室”和未诊断和 罕见的疾病 - 进一步开发和测试过程，方案和工具，用于临床评估和护理 各个年龄段的无诊断疾病的人。我们的生物信息学是与临床计划的整体连接 团队将带来UDN创新的生物信息学工具，以提高基因组的力量和覆盖范围 发现。我们国际认可的团队开发了将测序数据与临床集成的工具 和谱系信息（Vaast，Gemini，Rufus），以更好地找到引起疾病的变体。重要的是，有些 这些工具（IOBIO）是为临床医生设计的，没有广泛的生物信息学背景，以加快 步伐并扩大了最先进的基因检测的范围，而不是学术中心和 社区。为了提高可持续性，我们将完善并分享计划的工具和护理过程模型 综合临床和研究工作流程有效。 总而言之，Intermountain West临床站点将带来团队，经验，资源和机构 支持促进UDN的共同目标 - 改善难以诊断的诊断和管理 以及新的疾病，有效，平等和可持续。