Coordinating Center for the Undiagnosed Disease Network Phase II

未确诊疾病网络二期协调中心

• 批准号: 10599377
• 负责人: ISAAC S. KOHANE
• 金额: $ 219.99万
• 依托单位: HARVARD MEDICAL SCHOOL
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-04-01 至 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10599377
• 关键词: Adopted; Affect; Animal Model; Award; Bioinformatics; Biometry; Caring; Clinical; Clinical Data; Collaborations; Complement; Consensus; DNA Sequencing Facility; Data; Data Analyses; Diagnosis; Diagnostic; Diagnostics Research; Disease; Education and Outreach; Etiology; Evaluation; Follow-Up Studies; Funding; Genomics; Goals; Guidelines; Healthcare Systems; Individual; Industrialization; Infrastructure; Institution; Intelligence; International; Knowledge; Laboratories; Left; Manuals; Measurement; Participant; Patient Care; Patients; Personal Satisfaction; Phase; Population Database; Privacy; Procedures; Process; Productivity; Protocols documentation; Research; Resource Allocation; Role; Route; Running; Site; Symptoms; Technology; Testing; The Sun; Therapeutic; Therapeutic Intervention; Time; Trans-Omics for Precision Medicine; Translational Research; Uncertainty; United States National Institutes of Health; Work; biobank; clinical care; clinical center; clinical research site; dashboard; data curation; data sharing; diagnostic strategy; experience; gene function; genomic data; improved; innovation; insight; medical schools; metabolomics; multimodal data; novel; open source; operation; rare condition; response; screening; standard of care; tool

PROJECT SUMMARY In pursuit of a diagnosis, many patients undergo countless tests and procedures in hopes of finding answers. When these fail to yield diagnoses, patients are left in a state of uncertainty, faced with the possibility of never knowing the cause of their symptoms. Finding a diagnosis and other patients affected with the same, or similar, condition can reduce or eliminate this uncertainty and end the diagnostic odyssey. In our current healthcare system, it can take years before patients with rare conditions and rare presentations of common conditions receive a diagnosis- an amount of time that many of these patients simply do not have. As the Coordinating Center for the Undiagnosed Diseases Network (UDN), Harvard Medical School will support the integrated network of 8-10 clinical sites and multiple core laboratories striving to improve the level of diagnosis and care for patients with undiagnosed conditions and facilitate research into their etiologies. We will do this by leveraging our collective expertise and experience in managing multi-site studies, trans-institutional data sharing, data curation and analysis, bioinformatics, biostatistics, and translational research. In so doing, we will accomplish five aims: (1) Enhance UDN core operational processes, (2) Develop consensus across the UDN for evaluation and diagnostic approaches, (3) Follow the UDN participant beyond the diagnostic evaluation, (4) Expand the transactional and analytical intelligence applied to UDN data, and (5) Integrate a larger set of scientific and clinical care partners into the UDN.

项目概要 为了寻求诊断，许多患者接受了无数的测试和程序，希望找到答案。 当这些无法产生诊断时，患者就会处于一种不确定的状态，面临着永远无法诊断的可能性。 了解其症状的原因。查找诊断结果以及其他受到相同或类似影响的患者， 条件可以减少或消除这种不确定性并结束诊断过程。在我们现在的医疗保健中 系统，可能需要数年时间才能让患者出现罕见病症和罕见的常见病症 接受诊断——许多患者根本没有这样的时间。作为协调者 哈佛医学院未确诊疾病网络中心 (UDN) 将支持整合 8-10个临床中心和多个核心实验室的网络，努力提高诊断和护理水平 针对未确诊的患者并促进对其病因的研究。我们将通过以下方式做到这一点 利用我们在管理多地点研究、跨机构数据方面的集体专业知识和经验 共享、数据管理和分析、生物信息学、生物统计学和转化研究。这样做，我们将 实现五个目标：(1) 增强 UDN 核心运营流程，(2) 在整个 UDN 中达成共识 用于评估和诊断方法，(3) 在诊断评估之外跟踪 UDN 参与者，(4) 扩展应用于 UDN 数据的事务和分析智能，以及 (5) 集成更大的集合 科学和临床护理合作伙伴加入 UDN。

项目成果

Finding commonalities in rare diseases through the undiagnosed diseases network.

• DOI: 10.1093/jamia/ocab050
• 发表时间: 2021-07-30
• 期刊: Journal of the American Medical Informatics Association : JAMIA
• 作者: Yates J;Gutiérrez-Sacristán A;Jouhet V;LeBlanc K;Esteves C;Undiagnosed Diseases Network;DeSain TN;Benik N;Stedman J;Palmer N;Mellon G;Kohane I;Avillach P
• 通讯作者: Avillach P

Participation in a national diagnostic research study: assessing the patient experience.

• DOI: 10.1186/s13023-023-02695-5
• 发表时间: 2023-04-10
• 期刊: Orphanet journal of rare diseases
• 影响因子: 3.7
• 作者: Rosenfeld LE;LeBlanc K;Nagy A;Ego BK;Undiagnosed Diseases Network;McCray AT
• 通讯作者: McCray AT

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

• DOI: 10.1080/01677063.2017.1315417
• 发表时间: 2017-03
• 期刊: Journal of neurogenetics
• 影响因子: 1.9
• 作者: Zou F;McWalter K;Schmidt L;Decker A;Picker JD;Lincoln S;Sweetser DA;Briere LC;Harini C;Members of the Undiagnosed Diseases Network;Marsh E;Medne L;Wang RY;Leydiker K;Mower A;Visser G;Cuppen I;van Gassen KL;van der Smagt J;Yousaf A;Tennison M;Shanmugham A;Butler E;Richard G;McKnight D
• 通讯作者: McKnight D

GCN2 mediates access to stored amino acids for somatic maintenance during Drosophila ageing.

GCN2 介导果蝇衰老过程中储存氨基酸的获取以维持体细胞。

• DOI: 10.1101/2023.11.14.566972
• 发表时间: 2023
• 期刊: bioRxiv : the preprint server for biology
• 作者: Johnstone,JoshuaN;Mirth,ChristenK;Johnson,TravisK;Schittenhelm,RalfB;Piper,MatthewDW
• 通讯作者: Piper,MatthewDW

Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network.

• DOI: 10.1001/jamanetworkopen.2020.36220
• 发表时间: 2021-02-01
• 期刊: JAMA network open
• 影响因子: 13.8
• 作者: Amiri H;Kohane IS;Undiagnosed Diseases Network
• 通讯作者: Undiagnosed Diseases Network