Diagnosing the Unknown for Care and Advancing Science (DUCAS)

摘要 患有罕见疾病的人通常会经历漫长的诊断奥德赛，这会导致身体和 造成情绪负担，延误有效的治疗和管理。未诊断疾病网络 (UDN)在协作临床和研究方法方面取得了重大进展，以提供答案 有未确诊疾病的患者。然而，关键领域需要关注，包括获得研究的机会。 来自经历健康差距的社区的方法和代表性。作为数据管理 通过协调中心(DMCC)，我们的目标是弥补这些差距，并增强UDN的影响。我们的具体目标 提供基本的研究基础设施，增加对服务不足社区的接触，并优化 通过技术解决方案提高研究效率。通过扩展研究能力，让社区参与进来 体验健康差异，并利用先进技术，这项研究将推动 诊断和了解罕见和未诊断的疾病，使患者、科学界、 和医疗保健系统。

ABSTRACT Individuals with rare conditions often experience long diagnostic odysseys, which cause physical and emotional burdens and delay effective treatment and management. The Undiagnosed Diseases Network (UDN) has made significant progress in collaborative clinical and research approaches to provide answers to patients with undiagnosed conditions. However, critical areas require attention, including access to research approaches and representation from communities experiencing health disparities. As the Data Management Coordinating Center (DMCC), we aim to address these gaps and enhance the UDN's impact. Our specific aims are to provide essential research infrastructure, increase outreach to underserved communities, and optimize research efficiency through technical solutions. By expanding research capabilities, engaging communities experiencing health disparities, and leveraging advanced technologies, this research will advance the diagnosis and understanding of rare and undiagnosed conditions, benefiting patients, the scientific community, and the healthcare system.