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

未确诊疾病网络 (UDN) 第 2 期补充的 Intermountain West 临床中心

基本信息

批准号：
10599013
负责人：
Lorenzo Davide Botto
金额：
$ 17.08万
依托单位：
UNIVERSITY OF UTAH
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-03-31 至 2023-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10599013
关键词：
Adult Age Area Bioinformatics Biological California Caring Catchment Area Child Clinical Clinical Research Communities Comprehensive Health Care Computer software Data Analyses Diagnosis Diagnostic Disease Disease Pathway Enrollment Evaluation Family Family Study Funding Future Genes Genetic Genomics Geographic Locations Geography Goals Healthcare Systems Low income Participant Patient Care Patient-Focused Outcomes Patients Phase Population Pregnancy Process Protocols documentation Resources Rural Minority Site Software Tools Specimen Handling Translating Underserved Population United States Universities Utah Variant base bioinformatics pipeline bioinformatics tool clinical phenotype clinical research site experience follow-up genome analysis genomic tools improved innovation medical specialties programs recruit research clinical testing sample collection scientific organization sustainable resource tool

项目摘要

PROJECT SUMMARY/ABSTRACT Year 5 of the Intermountain West Clinical Site (University of Utah) for the Undiagnosed Disease Network will be focused on completing the evaluation of participants enrolled by June 30, 2022. Because of the pause in accepting participants by other sites, the Intermountain West Clinical Site has been receiving in year 4 a several-fold increase of applications from a wider geographic catchment area than was originally assigned to the site. This increased amount of effort in year 4 will translate in increased number of participants accepted in year 4 and having to be evaluated in year 5. The evaluation will follow the UDN protocols with the goal in year 5 of completing all evaluations accepted in year 4. 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/摘要未经诊断的疾病网络的Intermountaintain West临床现场（犹他大学）的5年级将专注于在2022年6月30日之前完成对参与者的评估。接受其他网站的参与者，West Intermountain West临床站点已在4年级接受从更广泛的地理流域区域增加了几倍的申请，而不是最初分配给的网站。在第4年的这种增加的努力将转化为被接受的参与者数量增加第4年，必须在第5年进行评估。评估将遵循UDN协议，并以年度目标为目标 5在完成4年级接受的所有评估中。经验，资源和机构支持以促进UDN的共同目标 - 改进诊断以及难以诊断和新疾病的管理，有效，平等和可持续。