Washington University School of Medicine Undiagnosed Diseases Network Clinical Site

项目摘要/摘要 这一应用的科学前提是，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的参与人群的可及性而进一步扩大。该应用程序将支持圣路易斯华盛顿大学(WUSTL)UDN临床网站。WUSTL医学院和BJC Healthcare共同代表着一个大型学术医疗中心、医院和门诊临床系统，该系统完全集成了世界知名的基础科学能力，并在为未诊断疾病的患者找到诊断方面展示了专业知识。WUSTL医学院高度协作的临床和生物医学研究文化促进了院系内部和跨部门的互动，促进了与机构基因组、临床、计算和模型系统专家的互动，以及与地区、国家和国际同事的互动。这些互动支持通过已建立的网络和个人转诊来招募、选择、评估、诊断发现和跟踪患有未诊断疾病的儿科和成人患者。在这一基础设施的基础上，我们建议通过创建一个新的系统，对申请和参与病例进行临床和基因组审查，并扩大临床专业知识，以解决不被怀疑有遗传基础的病例，从而继续推动UDN在诊断和管理未确诊患者的疾病方面的成功。第二，我们的目标是改善来自服务不足人群的参与者的公平性和获得UDN的机会。特别是，我们将把我们的外联计划重点放在代表性不足的少数群体和社会经济地位较低的人群。第三，我们将制定和实施一项可持续发展计划，尽可能将成本负担从研究支持上转移出来，同时保持未参保、参保不足或因其他原因无法支付的参与者的参与机会。我们将与统一数字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。

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.