An integrated and diverse genomic medicine program for undiagnosed diseases

摘要 UDN的使命是为具有未确诊表型的患者提供诊断，并推进 罕见病领域的研究。自2015年开放申请以来，杜克网站已经实现了这一目标。 完成使命，实现约40%的参与者的诊断，发表更多新的疾病基因发现 比网络中的任何其他网站，并描绘罕见/超罕见疾病的心理社会方面。这些 由于我们对临床和研究的多学科团队的投资， 专门致力于实现网络目标和改善参与者生活的专业人员 罕见或未确诊的疾病在这份行政补充文件中，我们将继续我们的工作， 在2022年6月30日之前被纳入网络的患者，但将在该时间之后接受评估 （n=20）。我们将完成基因组测序和分析，我们将确定和完成额外的 研究测试表明，以实现诊断为我们的参与者。我们还将重新评估 表型和基因组数据来自前几年仍未确诊的活跃患者（n= 120）。所有 新的和以前未确诊的患者将被告知他们的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， 患有或有孩子/家庭成员患有未确诊的疾病。最后，我们将继续参与 网络活动，包括正在进行的关于城市发展网的结构、职能和供资的讨论 超越第二阶段。

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.