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.

项目摘要/摘要 我们建议继续并改善犹他大学的未诊断疾病网络的座位临时临床场所。该网站将继续提供前所未有的访问，范围包括约10％的美国大陆。尤其是西部山区的居民是美国最卑鄙的人之一。在历史上，艰难，少数群体和低收入群体“遗传上的贫困人口”，包括美国土著人的大量人口。当我们至少评估15名参与者 /家庭时，我们将专注于有意支持和促进服务不足，少数群体和经济弱势社区的参与者的入学人数来增加股权。虽然我们的目标是评估任何专业的疾病的参与者，但我们将利用我们在遗传学，畸形，生化遗传学和代谢，骨和软骨障碍，内分泌学，免疫学，血管异常，神经学和神经肌肉肌肉疾病方面的特定专业知识。以增加价值的目标，我们将简化运营以提高质量的同时降低成本，这是迈向可持续性的重要一步。为了进一步支持UDN和我们的临床站点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性计划。在内部，我们将继续改善已经成功的计划a）提高运营效率，以通过简化的运营，远程访问和合作伙伴关系结合来降低成本； b）结合临床计费，机构支持和慈善事业，以支持诊断评估，尤其是那些服务不足和经济不利的参与者的评估。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，将UDN创新的生物信息学工具带入促进基因组发现的力量和覆盖范围，包括Iobio和Calypso。总而言之，Intermountain West临床站点将汇集团队，经验，资源和机构支持，以促进UDN的共同目标 - 改善难以诊断和新疾病的诊断和管理，效率高，同样地，强烈支持UDN的过渡到可持续的国家资源。