An integrated and diverse genomic medicine program for undiagnosed diseases

针对未确诊疾病的综合且多样化的基因组医学计划

• 批准号: 10600346
• 负责人: VANDANA SHASHI
• 金额: $ 56.61万
• 依托单位: DUKE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-07-01 至 2023-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10600346
• 关键词: Achievement; Administrative Supplement; Animal Model; Bioinformatics; Candidate Disease Gene; Caring; Characteristics; Child; Clinical; Clinical Medicine; Clinical Research; Collaborations; Communities; DNA Sequencing Facility; Data; Data Collection; Diagnosis; Diagnostic; Disease; Etiology; Evaluation; Family; Family member; Financial Hardship; Fostering; Funding; Genetic Counseling; Genomic medicine; Genomics; Goals; Healthcare; Human Resources; Investments; Leadership; Longitudinal Studies; Manuals; Medical; Methods; Mission; Outcome; Participant; Patients; Personal Satisfaction; Phase; Phenotype; Principal Investigator; Procedures; Productivity; Psychology; Public Health; Publications; Publishing; Rare Diseases; Research; Resolution; Science; Site; Social Sciences; Specific qualifier value; Structure; Surveys; Testing; Time; United States National Institutes of Health; Update; Variant; Work; clinical practice; clinical research site; data sharing; empowerment; exome; expectation; gene discovery; genome sequencing; genomic data; improved; innovation; metabolomics; multidisciplinary; novel; pandemic disease; phenotypic data; programs; prospective; psychological distress; psychosocial; success; transcriptome sequencing; working group

Abstract The mission of the UDN is to provide diagnoses to patients with undiagnosed phenotypes and advance research in the field of rare diseases. Since opening for applications in 2015 the Duke site has fulfilled this mission fully, achieving diagnoses for ~40% of participants, publishing more new disease gene discoveries than any other site in the Network, and delineating the psychosocial aspects of rare/ultra-rare disorders. These achievements have been possible due to our investment in a multi-disciplinary team of clinical and research professionals that focuses solely on achieving the goals of the Network and improving the lives of participants with rare or undiagnosed disorders. In this administrative supplement we will continue our work for new patients who are accepted into the Network for prior to June 30, 2022, but will be evaluated after that time (n=20). We will complete genomic sequencing and analysis, and we will identify and complete additional research tests as indicated in order to achieve diagnoses for our participants. We also will reevaluate the phenotypic and genomic data from active patients who remain undiagnosed from previous years (n= 120). All new and previously undiagnosed patients will be notified of the final status of their UDN evaluation and any pertinent results. We will continue to assess the psychosocial characteristics that are associated with living with, or having a child/family member with, an undiagnosed disease. Finally, we will continue to participate in Network activities, including the ongoing discussions regarding the structure, function and funding for the UDN beyond Phase II.

抽象的 UDN的任务是为未诊断表型的患者提供诊断并提高 稀有疾病领域的研究。自2015年开放申请以来，杜克网站已经实现了这一目标 全面任务，为约40％的参与者诊断，发表更多的新疾病基因发现 比网络中的任何其他站点，并描述了稀有/超稀有疾病的社会心理方面。这些 由于我们对临床和研究的多学科团队的投资，成就是可能的 专业人士仅着重于实现网络的目标并改善参与者的生活 患有罕见或未诊断的疾病。在这种行政补品中，我们将继续我们的新工作 在2022年6月30日之前被接受进入网络的患者，但将在此之后进行评估 （n = 20）。我们将完成基因组测序和分析，我们将确定并完成其他 为了实现参与者的诊断而进行的研究测试。我们还将重新评估 来自前几年未诊断的活性患者的表型和基因组数据（n = 120）。全部 新的和以前未诊断的患者将收到其UDN评估的最终状态和任何 相关结果。我们将继续评估与生活相关的社会心理特征 患有或有儿童/家庭成员患有未诊断的疾病。最后，我们将继续参加 网络活动，包括有关UDN的结构，功能和资金的持续讨论 超越第二阶段。