Diagnosing the Unknown for Care and Advancing Science (DUCAS)

摘要 患有罕见疾病的个体通常会经历漫长的诊断过程，这会导致身体和 情绪负担和延误有效的治疗和管理。未诊断疾病网络 (UDN)在合作临床和研究方法方面取得了重大进展， 未确诊的患者。然而，关键领域需要关注，包括获得研究成果的机会 方法和代表经历健康差距的社区。作为数据管理 协调中心（DMCC），我们的目标是解决这些差距，提高UDN的影响。我们的具体目标 提供必要的研究基础设施，增加对服务不足社区的推广，并优化 通过技术解决方案提高研究效率。通过扩大研究能力， 经历健康差距，并利用先进技术，这项研究将推动 诊断和了解罕见和未确诊的疾病，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.