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

• 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
• 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

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.

项目总结/摘要 这项申请的科学前提是，未诊断疾病网络（UDN）的个性化转化研究过程是可持续的，其对患者，家庭和疾病发现的影响可以通过增加其对更广泛参与人群的可访问性来进一步扩展。此应用程序将支持圣路易斯华盛顿大学（WUSTL）UDN临床研究中心。WUSTL医学院和BJC Healthcare共同代表了一个大型学术医疗中心，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集成，并在为患有未确诊疾病的患者寻找诊断方面表现出专业知识。在医学WUSTL学校高度合作的临床和生物医学研究文化促进部门内和跨部门的互动，与机构基因组，临床，计算和模型系统专家，并与同事区域，国家和国际。这些互动支持招募，选择，评估，诊断发现，并通过建立网络和个人转诊的未确诊疾病的儿童和成人患者的后续行动。在此基础设施的基础上，我们建议继续推进UDN在诊断和管理未确诊患者疾病方面的成功，方法是创建一个新的系统，用于对申请和参与病例进行临床和基因组审查，并扩展临床专业知识，以解决不怀疑有遗传基础的病例。第二，我们的目标是提高公平性，并为来自服务不足人口的参与者提供进入UDN的机会。特别是，我们将把我们的外展计划的重点放在代表性不足的少数民族人口和社会经济地位较低的人口。第三，我们将制定和实施一项可持续发展计划，在可能的情况下将成本负担从研究支持转移，同时保持未投保、投保不足或以其他方式无法支付的参与者的准入。我们将与UDN网络和协调中心密切合作，研究实现这些目标的障碍，并提出解决这些障碍的战略。