Diagnosing the Unknown for Care and Advancing Science (DUCAS)

诊断未知的护理和推进科学 (DUCAS)

• 批准号: 10872436
• 负责人: Euan A Ashley
• 金额: $ 355万
• 依托单位: HARVARD MEDICAL SCHOOL
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-04-19 至 2028-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10872436
• 关键词: Address; Administrative Supplement; Area; Artificial Intelligence; Attention; Bioinformatics; Biomedical Research; Caenorhabditis elegans; Caring; Clinical; Collaborations; Communities; Consultations; DNA Sequencing Facility; Data Analyses; Data Coordinating Center; Dedications; Diagnosis; Diagnostic; Disease; Drosophila genus; Ecosystem; Elements; Emotional; Equity; Evaluation; Family; Fostering; Funding; Genes; Goals; Healthcare Systems; Improve Access; Individual; Infrastructure; Institution; Intervention; Investigation; Lead; Maintenance; Medical; Modeling; Oregon; Outcome; Participant; Pathogenicity; Patients; Phase; Phenotype; Positioning Attribute; Principal Investigator; Recruitment Activity; Research; Research Infrastructure; Research Methodology; Resources; Sampling; Science; Site; Stress; Surveys; Target Populations; Technology; Testing; Transgenic Organisms; Universities; Variant; Washington; Zebrafish; accurate diagnosis; biobank; catalyst; clinical research site; community engagement; effective therapy; experience; health disparity; improved; meetings; member; metabolomics; model organism; multidisciplinary; novel; outreach; rare condition; recruit; screening; success; underserved community

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.

抽象的 罕见情况的个人通常会经历长期的诊断奥德赛，这会导致身体和 情绪负担并延迟有效的治疗和管理。未诊断的疾病网络 （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 未诊断条件的患者。但是，关键领域需要关注，包括进入研究 经历健康差异的社区的方法和代表。作为数据管理 协调中心（DMCC），我们旨在解决这些差距并增强UDN的影响。我们的具体目标 提供基本的研究基础设施，增加服务不足的社区的宣传，并优化 通过技术解决方案进行研究效率。通过扩大研究能力，吸引社区 经历健康差异和利用高级技术，这项研究将推动 对罕见和未诊断疾病的诊断和理解，使患者，科学界受益， 和医疗保健系统。