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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

基本信息

批准号：
9789903
负责人：
JULIAN ANTONIO MARTINEZ
金额：
$ 75万
依托单位：
UNIVERSITY OF CALIFORNIA LOS ANGELES
依托单位国家：
美国
项目类别：
财政年份：
2014
资助国家：
美国
起止时间：
2014-07-01 至 2022-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9789903
关键词：
Address Adult Affect Animal Model Area Basic Science Biopsy Caring Center for Translational Science Activities Childhood Clinic Clinical Clinical Management Clinical Research Clinical Sciences Collaborations Communication Communities Consent Consumption DNA sequencing Data Diagnosis Diagnostic Disclosure Disease Disease Management Elements Environment Evaluation Eye Faculty Family Financial Hardship Follow-Up Studies Foundations Funding Genetic Counseling Genetic screening method Genomics Goals Grant Health Personnel Health system Healthcare Healthcare Systems Human Genome Image Individual Infrastructure Institutes International Investigation Laboratories Laboratory Study Link Maintenance Medical Genetics Medical Students Medicine Messenger RNA Methods Mission Modeling Modification Mutation Open Reading Frames Outcome Participant Pathogenicity Patient Care Patients Persons Phase Phenotype Physicians Policies Population Precision Health Procedures Process Protocols documentation Rare Diseases Reproducibility Research Research Personnel Resources Schedule Scientist Site Source Standardization Structure Symptoms System Taxes Technology Time Training Training Activity Translational Research Translations Variant Veterans Visit Work base care delivery care outcomes clinical care clinical diagnostics clinical investigation clinical phenotype clinical practice clinical research site cost disease diagnosis exome sequencing experience flexibility gene discovery gene function genetic counselor genetic variant genome sequencing genome-wide genomic data graduate student improved insertion/deletion mutation interdisciplinary approach medical schools medical specialties molecular diagnostics next generation novel patient population programs psychologic psychosocial rare genetic disorder recruit research clinical testing screening success transcriptome transcriptome sequencing whole genome

项目摘要

Project Summary / Abstract Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and families. Our renewal application builds on our success in helping to form and grow the current Undiagnosed Diseases Network (UDN). Our proposal strengthens a collaborative network of researchers and healthcare providers, all with a stake in improving healthcare and outcomes for persons affected by various rare genetic disorders. Our approach synergizes basic and clinical research and patient care with the use of cutting-edge phenotyping technologies, an array of world class experts, and the translation of genome sequencing to the bedside. This results in a greatly improved diagnostic process for rare genetic diseases and facilitates novel discovery in clinical practice. 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. Our proposal describes our current UDN Clinical Site and modifications necessary to transition to a sustainable clinic model that functions within the UCLA Health System and as a component of an ongoing international network to tackle the incorporation of cutting edge molecular diagnostics into the clinical workflow, analyze patients’ symptoms in a standardized and reproducible fashion, and perform research investigations to elucidate the mechanisms of undiagnosed diseases. We will reach these overarching goals by implementing the following specific aims: Aim 1: Sustain 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. Substantial David Geffen School of Medicine resources are available to facilitate the transition and maintenance of the sustainable clinic model that serves an essential need with the UCLA Health System, the School of Medicine, and the Institute for Precision Health. The UCLA approach is an efficient model for accelerating translational and clinical research while improving care delivery and augmenting the educational mission of UCLA. Our project integrates the resources of (1) the infrastructure of the UCLA Clinical and Translational Science Institute, (2) an experienced team of clinicians from all specialty fields, (3) expertise in the combined interrogation of DNA and RNA sequencing data for novel gene discovery; (4) expertise in the investigation of environmental effects on clinical symptoms; (5) expertise in outcomes of genetic counseling and testing, (6) access to a large, ethnically varied population and (7) a sustainable approach that includes training clinicians, genetic counselors, and basic scientists in the multidisciplinary approach to solve undiagnosed diseases.

项目概要/摘要未确诊的疾病对医疗保健系统以及受影响的患者和患者造成了不成比例的损失家庭。我们的续签申请建立在我们成功帮助形成和发展当前未诊断的群体的基础上疾病网络（UDN）。我们的提案加强了研究人员和医疗保健的协作网络改善受各种罕见遗传影响的人的医疗保健和治疗结果与所有提供者都息息相关失调。我们的方法利用尖端技术将基础和临床研究以及患者护理结合起来表型分析技术、众多世界级专家以及将基因组测序转化为床头。这极大地改善了罕见遗传病的诊断过程，并促进了新的研究临床实践中的发现。研究涉及多个系统的罕见疾病并整合全面的基因组数据进入临床护理带来了相当大的挑战，从解释大量遗传变异的数量、与症状的相关性、与其相关的沟通问题披露及其对临床管理的影响。我们的提案描述了我们当前的 UDN 临床站点以及过渡到在 UCLA Health 内运作的可持续诊所模式所需的修改系统并作为持续国际网络的组成部分，以解决尖端技术的整合问题将分子诊断纳入临床工作流程，以标准化且可重复的方式分析患者的症状时尚，并进行研究调查以阐明未确诊疾病的机制。我们将通过实现以下具体目标来实现这些总体目标：目标 1：维持 UDN 诊所模式在本地和网络范围内运行；目标 2：研究新的和罕见疾病的临床表型；目标 3：研究新的和罕见疾病的潜在机制；目标4：建立全网络新的和罕见疾病转化研究的可持续基础设施。大卫·格芬医学院资源可用于促进可持续诊所的过渡和维护满足加州大学洛杉矶分校卫生系统、医学院和研究所的基本需求的模型为了精准健康。加州大学洛杉矶分校的方法是加速转化和临床的有效模型研究，同时改善护理服务并增强加州大学洛杉矶分校的教育使命。我们的项目整合了以下资源：(1) 加州大学洛杉矶分校临床和转化科学研究所的基础设施，(2) 由来自各个专业领域的经验丰富的临床医生组成的团队，（3）在 DNA 和 DNA 综合询问方面的专业知识用于新基因发现的 RNA 测序数据； (4) 环境影响调查专业知识临床症状； (5) 遗传咨询和检测结果方面的专业知识，(6) 获得大型、种族不同的人群和（7）可持续的方法，包括培训临床医生、遗传咨询师和基础科学家采用多学科方法来解决未确诊的疾病。