UCLA clinical site for the investigation of undiagnosed disorders

联系PD/PI：纳尔逊，Stanley F. 项目总结/摘要 未经诊断的疾病对卫生保健系统和受影响的患者造成不成比例的损失， 家庭UDN的UCLA临床研究中心成功地参与了 通过UDN指导委员会、工作组、UDN会议和基因组创新实现UDN 分析.我们建议在项目期间招募、选择、评估和跟踪至少15名参与者， 并遵守所有UDN指南。我们将专门从健康差异人群中招募人员。我们 将与UDN协调中心合作，审查和接受加州大学洛杉矶分校的评估案件， 重点关注与神经学，神经发育，偏侧肥大，癌症易感性， 神经肌肉、心肌病、免疫学、胃肠病学或遗传疾病。我们将最大限度地 在医疗系统中使用远程医疗、远程评估和进行定向临床试验 可供参与者使用（即，在网络护理提供者中）。加州大学洛杉矶分校临床研究中心将协调活动， 获得全面和综合的表型信息，并通过研究测试、基因组 不包括在保险范围内的分析，以及先进的非编码DNA基因组解释， 在UCLA UDN诊所内以可持续的方式进行转录组评估。我们的建议涉及 UDN作为临床实践中的综合研究企业的总体目标，以确定原因 1）收集罕见病患者的标准化，高质量的表型数据 2)通过相关病历审查/团队讨论提高诊断效率，以及 与转录组学的整合，以改善基因组测序的解释，以及3）在 整体UDN，以促进其整个网络的数据整合，以加强对罕见疾病的了解， 机制等我们继续通过实施以下具体目标来实现这些总体目标： 1：实现一个UDN诊所模型，在本地和网络范围内发挥作用;目的2：调查临床 新的和罕见疾病的表型;目的3：研究新的和罕见疾病的潜在机制 目标4：建立和完善一个网络范围内的可持续基础设施，用于新疾病的转化研究。 和罕见疾病 项目摘要/摘要第6页

Contact PD/PI: Nelson, Stanley F. Project Summary / Abstract Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and families. The UCLA Clinical Site of the UDN has successfully participated in the formation and management of the UDN through UDN Steering Committee, Working Groups, UDN meetings, and innovation in genomic analysis. We propose here to recruit, select, evaluate, and follow at least 15 participants in the project period, and abide by all UDN guidelines. We will specifically recruit individuals from health disparity populations. We will work with the UDN Coordinating Center to review and accept cases for evaluation at UCLA with a special emphasis on disorders related to: neurology, neurodevelopment, hemihypertrophy, cancer predisposition, neuromuscular, cardiomyopathy, immunology, gastroenterology, or genetic diseases. We will maximize the use of telemedicine, remote assessments, and performance of directed clinical tests within medical systems available to participants (i.e., in network care providers). The UCLA Clinical site will coordinate activities to obtain comprehensive and integrated phenotypic information and augment this with research testing, genomic analysis not covered by insurance, and advanced genomic interpretation of non-coding DNA through transcriptomic assessments within the UCLA UDN Clinic in a sustainable manner. Our proposal addresses the overarching goals of the UDN as an integrated research enterprise within clinical practice to identify the causes of undiagnosed diseases by 1) collecting standardized, high-quality phenotypic data on rare disease patients 2) improving the efficiency of diagnosis through relevant medical records review/team discussion, and integration with transcriptomics to improve interpretation of genomic sequencing, and 3) working within the overall UDN to promote integration of data across its network to enhance understanding of rare diseases and mechanisms. We continue to reach these overarching goals by implementing the following specific aims: Aim 1: Implement a UDN clinic model that functions locally and network-wide; Aim 2: Investigate the clinical phenotypes of new and rare disorders; Aim 3: Investigate the underlying mechanisms of new and rare disorders; Aim 4: Build and refine a network-wide sustainable infrastructure for translational research on new and rare disorders. Project Summary/Abstract Page 6