UCLA clinical site for the investigation of undiagnosed disorders

加州大学洛杉矶分校临床中心，用于调查未确诊疾病

• 批准号: 10696495
• 负责人: JULIAN ANTONIO MARTINEZ
• 金额: $ 62.39万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-05-01 至 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10696495
• 关键词: Address; Administrative Supplement; Adult; Affect; Area; Basic Science; Cardiomyopathies; Caring; Charge; Childhood; Clinic; Clinic Visits; Clinical; Clinical Research; Consumption; DNA; Data; Diagnosis; Diagnostic; Disease; Disease Management; Electronic Mail; Elements; Enrollment; Equity; Evaluation; Family; Family member; Financial Hardship; Funding; Gastroenterology; Gastrointestinal Diseases; Genetic Diseases; Genetic Medicine; Genomics; Genotype; Goals; Grant; Guidelines; Health; Health Personnel; Health system; Healthcare; Healthcare Systems; Human Genome; Immunology; Individual; Infrastructure; Insurance; Investigation; Laboratories; Medical; Medical Records; Methods; Modeling; Myopathy; Neurology; Outcome; Participant; Patients; Performance; Persons; Phase; Phenotype; Policies; Preparation; Protocols documentation; Provider; Rare Diseases; Research; Research Personnel; Review Committee; Standardization; Structure; Symptoms; System; Taxes; Technology; Telemedicine; Telephone; Testing; Time; Translational Research; Translations; Travel; Underinsured; Uninsured; Untranslated RNA; Update; Visit; Work; cancer predisposition; care providers; clinical diagnostics; clinical investigation; clinical phenotype; clinical practice; clinical research site; cost; data integration; exome sequencing; experience; flexibility; genetic variant; health disparity populations; improved; innovation; integration site; meetings; member; neurodevelopment; neuromuscular; operation; participant enrollment; phenotypic data; psychologic; rare genetic disorder; recruit; remote assessment; research clinical testing; screening; synergism; transcriptomics; variant of interest; whole genome; working group

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.

项目总结/摘要 未经诊断的疾病对卫生保健系统以及受影响的患者和家庭造成了不成比例的损失。UDN的加州大学洛杉矶分校临床研究中心通过UDN指导委员会、工作组、UDN会议和基因组分析创新成功地参与了UDN的形成和管理。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，审查并接受在UCLA进行评估的病例，特别强调与以下疾病相关的疾病：神经病学，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。我们将最大限度地利用远程医疗、远程评估和参与者可用的医疗系统内的定向临床测试（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，以获得全面和综合的表型信息，并通过研究测试，保险不涵盖的基因组分析以及通过转录组评估在加州大学洛杉矶分校UDN诊所内以可持续的方式对非编码DNA进行高级基因组解释来增强这一点。我们的提案解决了UDN作为临床实践中的综合研究企业的总体目标，以通过以下方式确定未诊断疾病的原因：1）收集罕见疾病患者的标准化，高质量的表型数据2）通过相关的医疗记录审查/团队讨论提高诊断效率，并与转录组学整合以改善基因组测序的解释，3）在整个UDN内开展工作，促进其网络数据的整合，以提高对罕见疾病及其机制的理解。我们继续通过实施以下具体目标来实现这些总体目标：目标1：实施一个在本地和网络范围内发挥作用的UDN临床模式;目标2：调查新的和罕见疾病的临床表型;目标3：调查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，用于新的和罕见疾病的转化研究。