Intermountain West Clinical Site for the Undiagnosed Disease Network (UDN) Continuation

未确诊疾病网络 (UDN) 延续的西山间临床中心

• 批准号: 10693588
• 负责人: Lorenzo Davide Botto
• 金额: $ 61.57万
• 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 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10693588
• 关键词: Adult; Area; Biochemical Genetics; Bioinformatics; Blood Vessels; Bone Diseases; Caring; Cartilage Diseases; Child; Clinical; Collaborations; Communities; Diagnosis; Diagnostic; Disease; Dysmorphology; Endocrinology; Enrollment; Equity; Ethnic Origin; Evaluation; Family; Funding; Future; Genetic; Genomics; Goals; Hematology; Immunology; Improve Access; Institution; Kansas; Knowledge; Linguistics; Link; Low Income Population; Metabolic Diseases; Metabolism; Minority; Native Americans; Nebraska; Neurology; Neuromuscular Diseases; North Dakota; Participant; Patients; Population; Process; Race; Records; Research; Resources; Rural; Science; Site; Software Tools; South Dakota; Testing; United States; United States National Institutes of Health; Universities; Utah; Work; bioinformatics tool; clinical research site; cost; economic disparity; experience; genome analysis; improved; innovation; medical specialties; multidisciplinary; neighborhood disadvantage; operation; participant enrollment; programs; recruit; remote visit; sustainable resource; tool; underserved community

PROJECT SUMMARY/ABSTRACT We propose to continue and improve the Intermountain West Clinical Site at the University of Utah for the Undiagnosed Disease Network. The site will continue to provide unprecedented access to a vast area across states that encompasses ~10% of the Continental US. Residents in the Intermountain West in particular 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. As we enroll and evaluate a minimum of 15 participants / families, we will focus on increasing equity by intentionally supporting and promoting the enrollment of participants from underserved, minority, and economically disadvantages communities. While we will aim to evaluate participants with disorders from any specialty, we will leverage our specific expertise in genetics, dysmorphology, biochemical genetics and metabolism, bone and cartilage disorders, endocrinology, immunology, vascular anomalies, neurology and neuromuscular disease. With the goal of increasing value, we will streamline operations to improve quality while reducing costs, as an important step towards sustainability. To further support the transition of the UDN and our clinical site to a sustainable resource, we will develop further our internal and external sustainability plans. Internally, we will continue to improve our already successful program of a) increasing operational efficiencies to decrease costs by a combination of streamlined operations, remote visits, and partnerships; and b) combining clinical billing, institutional support, and philanthropy to support diagnostic evaluations, especially those for underserved and economically disadvantaged participants. Externally, to promote sustainability of the UDN as a national resource, we will share our processes and tools and continue to work with our bioinformatics team to bring to the UDN innovative bioinformatics tools to advance the power and the reach of genomic discovery, including IOBIO and CALYPSO. In summary, the Intermountain West Clinical Site will bring together 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 and equitably, strongly supporting the transition of the UDN to a sustainable national resource.

项目概要/摘要 我们建议继续并改进犹他大学未确诊疾病网络的西山间临床站点。该站点将继续为覆盖美国大陆约 10% 的各州广阔区域提供前所未有的访问。尤其是西山间地区的居民是美国服务最匮乏的地区之一；农村、少数民族和低收入群体历来“基因服务不足”，其中包括大量美洲原住民。当我们招募和评估至少 15 名参与者/家庭时，我们将通过有意支持和促进来自服务不足、少数族裔和经济弱势社区的参与者的注册来重点提高公平性。虽然我们的目标是评估患有任何专业疾病的参与者，但我们将利用我们在遗传学、畸形学、生化遗传学和代谢、骨和软骨疾病、内分泌学、免疫学、血管异常、神经学和神经肌肉疾病方面的具体专业知识。为了提高价值，我们将简化运营，提高质量，同时降低成本，这是实现可持续发展的重要一步。为了进一步支持 UDN 和我们的临床中心向可持续资源的过渡，我们将进一步制定我们的内部和外部可持续发展计划。在内部，我们将继续改进我们已经成功的计划：a) 通过简化运营、远程访问和合作伙伴关系来提高运营效率以降低成本； b) 结合临床计费、机构支持和慈善事业来支持诊断评估，特别是针对服务不足和经济弱势的参与者的诊断评估。在外部，为了促进 UDN 作为国家资源的可持续性，我们将分享我们的流程和工具，并继续与我们的生物信息学团队合作，为 UDN 带来创新的生物信息学工具，以提高基因组发现的力量和范围，包括 IOBIO 和 CALYPSO。综上所述，山间西临床中心将汇集团队、经验、资源和机构支持，以高效、公平地推进 UDN 的共同目标——改善疑难疾病和新发疾病的诊断和管理，有力支持 UDN 向可持续国家资源的转变。