Washington University School of Medicine Undiagnosed Diseases Network Clinical Site

华盛顿大学医学院未确诊疾病网络临床站点

基本信息

批准号：
10696751
负责人：
PATRICIA I DICKSON
金额：
$ 62.33万
依托单位：
WASHINGTON UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-09-21 至 2024-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10696751
关键词：
Academic Medical Centers Adult Area Awareness Basic Science Biological Models Biomedical Research Candidate Disease Gene Cell model Chairperson Child Childhood Clinical Clinical Research Clinical Sciences Clinical Services Clinical Trials Clinical and Translational Science Awards Collaborations Data Data Collection Data Coordinating Center Diagnosis Disease Disease Management Doctor of Philosophy Enrollment Equity Evaluation Expert Systems Family Frustration Funding Future Genes Genetic Genetic Research Genomics Goals Grant Healthcare Home Hospitals Human Genetics Immune System Diseases Individual Infrastructure Inherited Institution Insurance Intellectual and Developmental Disabilities Research Centers International Laboratory Study Letters Manuscripts Medical Medical Genetics Minority Groups National Center for Advancing Translational Sciences National Institute of Child Health and Human Development Neurology Outpatients Participant Patients Phase Physicians Population Precision Health Process Protocols documentation Publishing Pulmonology Rare Diseases Research Research Support Resources Rheumatology Rural Population Services Site Societies Source System Testing Toxicology Translational Research Underinsured Underrepresented Minority Underserved Population Uninsured United States National Institutes of Health Universities Variant Washington Work clinical research site cohort community partnership cost cost shifting data management data sharing ethnic diversity follow-up genome sequencing imaging study improved low socioeconomic status medical schools medical specialties metabolomics model organism non-genetic novel novel therapeutics outreach outreach program payment pediatric department precision medicine programs racial diversity recruit research clinical testing success systematic review underserved community whole genome

项目摘要

PROJECT SUMMARY/ABSTRACT The scientific premise of this application is that the individualized translational research process of the Undiagnosed Diseases Network (UDN) is sustainable and that its impact on patients, families, and disease discovery can be further extended by increasing its accessibility to a broader participant population. This application would support the Washington University in St. Louis (WUSTL) UDN Clinical Site. WUSTL School of Medicine and BJC Healthcare together represent a large academic medical center, hospital, and outpatient clinical system that is fully integrated with world-renowned basic science capabilities and demonstrated expertise in finding diagnoses for patients with undiagnosed diseases. The highly collaborative clinical and biomedical research culture at WUSTL School of Medicine promotes interactions within and across Departments, with institutional genomic, clinical, computational, and model system experts, and with colleagues regionally, nationally, and internationally. These interactions support recruitment, selection, evaluation, diagnosis discovery, and follow up of pediatric and adult patients with undiagnosed diseases through both established networks and individual referrals. Building on this infrastructure, we propose to continue to advance the success of the UDN in diagnosing and managing disease in undiagnosed patients by creating a new system for clinical and genomic review of applications and participant cases, with expanded clinical expertise to solve cases that are not suspected to have genetic underpinnings. Second, we aim to improve equity and access to the UDN for participants from underserved populations. In particular, we will focus our outreach program for underrepresented minority populations and populations with lower socioeconomic status. Third, we will develop and implement a sustainability plan that will shift the cost burden from research support where possible, while maintaining access for participants who are uninsured, under- insured, or otherwise unable to pay. We will work closely with the UDN network and Coordinating Center to study the barriers to achieving these goals and propose strategies to solve them.

项目摘要/摘要该应用的科学前提是，未诊断的疾病网络（UDN）的个性化转化研究过程是可持续的，并且可以通过增加对更广泛参与者的可及性来进一步扩展其对患者，家庭和疾病发现的影响。该申请将支持圣路易斯（Wustl）UDN临床场所的华盛顿大学。 Wustl医学院和BJC医疗保健共同代表了一个大型的学术医疗中心，医院和门诊临床系统，该系统与世界知名的基础科学能力完全融合在一起，并在寻找未诊断疾病的患者的诊断方面具有专业知识。 Wustl医学院的高度协作临床和生物医学研究文化促进了部门内部和跨部门的相互作用，与机构基因组，临床，计算和模型系统专家以及与区域，全国和国际上的同事。这些相互作用支持通过已建立的网络和个人转诊的儿科和成年患者的招募，选择，评估，诊断发现以及未经诊断疾病的随访。在此基础设施的基础上，我们建议通过创建一种新的系统和基因组审查应用程序和参与者病例的新系统来促进UDN在诊断和管理未诊断患者疾病方面的成功，并具有扩大的临床专业知识，以解决临床专业知识，以解决并不怀疑具有遗传基础的病例。其次，我们旨在提高服务不足人群的参与者的股权并获得UDN。特别是，我们将把外展计划集中在社会经济地位较低的少数群体和人群中。第三，我们将制定并实施一项可持续性计划，该计划将尽可能将成本负担从研究支持转移，同时维持未经保险，没有保险或无法支付的参与者的访问权限。我们将与UDN网络和协调中心紧密合作，研究实现这些目标的障碍，并提出解决这些目标的策略。