UCLA clinical site for the investigation of undiagnosed disorders

项目摘要/摘要 未确诊的疾病对医疗保健系统和受影响的患者造成了不成比例的损失， 家人。UDN8/05/22-06/30/23加州大学洛杉矶分校临床站点第二份行政补充 具体是支持重新启动正在进行的招聘、案例评估预接受、确定 接受受影响的个人和有关家庭成员以及 应用可持续临床方法和数据返回和总结对15例新的UDN进行临床评估 参与者。本提案是相对于同时进行的行政补充而组织的，没有预算 重叠。我们准备在22年9月1日重新开始注册，并在22年6月30日之前完成评估。这笔资金 将允许加州大学洛杉矶分校的临床网站为新参与者支付与研究相关的费用。我们的可持续临床模式 在加州大学洛杉矶分校将使用行政补充资金来支付与基本和 与新登记相关的临床数据收集和临床评估将向患者计费 保险公司。这改进了对未诊断疾病的诊断过程。调查罕见 涉及多个系统并将全面的基因组数据纳入临床护理的疾病创造了 相当大的挑战，从对大量基因变异的解释到它们与 与症状、与其披露相关的沟通问题及其对临床管理的影响有关。 UDN的加州大学洛杉矶分校临床网站的第二份行政补编将支持正在进行的 与申请者沟通、审查医疗记录、个案讨论、接受决定和 在加州大学洛杉矶分校通过远程医疗或在加州大学洛杉矶分校卫生诊所内亲自进行病例评估 保险账单和患者自付，包括NIH基金的研究结构和研究测试 包括先前批准的行政副刊、本第二份补充申请、 以及前一年未承付余额的结转请求。我们将继续实现这些首要目标 通过实施以下具体目标：目标1：实施在当地和 目标2：调查新的和罕见疾病的临床表型；目标3：调查 新疾病和罕见疾病的基本机制；目标4：建立全网络可持续基础设施 新罕见病的翻译研究

Project Summary / Abstract Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and families. This second Administrative Supplement for 08/05/22-06/30/23 for the UCLA Clinical Site of the UDN is specifically to support re-initiation of ongoing recruitment, case evaluations pre-acceptance, determination of acceptance, and enrollment/consenting of the affected individual and relevant family members as well as clinical evaluation using the sustainable clinic approach with data return and wrap-up for 15 new UDN participants. This proposal is organized relative to a concurrent administrative supplement without budgetary overlap. We are poised to restart enrollment by 09/01/22, and complete evaluations by 6/30/22. This funding will allow the UCLA clinical site to cover research related costs for new enrollees. Our sustainable clinic model at UCLA will use the administrative supplement to provide for some of the costs associated with basic and clinical data collection related to the new enrollments, and clinical evaluations will be billed to patient insurance. This results in an improved diagnostic process for undiagnosed diseases. Investigating rare diseases involving multiple systems and incorporating comprehensive genomic data into clinical care creates considerable challenges, from the interpretation of vast amounts of genetic variants to their relevance to the symptoms, to the communication issues linked to their disclosure, and to their impact on clinical management. The Second Administrative Supplement of the UCLA Clinical Site of the UDN will support the ongoing communications with applicants, review of medical records, case discussion, acceptance decisions and communications, case evaluation at UCLA by telemedicine or in person within UCLA Health clinics and with insurance billing and patient co-pay, with coverage of research structure and research testing from NIH funds including a combination of a previously approved Administrative Supplement, this second supplement request, and a carryforward request from prior year unobligated balance. 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 a network-wide sustainable infrastructure for translational research on new and rare disorders