数据共享推动罕见病和被忽视疾病的临床研究与治疗。
Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments.
作者信息
Bienstock Rachelle J
机构信息
RJB Computational Modeling LLC, Chapel Hill, North Carolina 27514, United States.
出版信息
ACS Pharmacol Transl Sci. 2019 Aug 22;2(6):491-496. doi: 10.1021/acsptsci.9b00034. eCollection 2019 Dec 13.
Abstract
Because of the decreased cost and increased ease of whole genome analysis, the diagnosis of rare, orphan diseases has entered a new era. This new technological advance, combined with the worldwide web connections, now permits sharing, searching, and linking genotype, phenotype, and other information to facilitate diagnosis. Databases currently accessible and searchable by researchers, clinicians, and patients will be presented and discussed.
摘要
由于全基因组分析成本降低且操作更加简便，罕见病、孤儿病的诊断进入了一个新时代。这项新的技术进步，再加上全球网络连接，现在使得基因型、表型及其他信息的共享、搜索和关联成为可能，从而有助于诊断。本文将展示并讨论研究人员、临床医生和患者目前可以访问和搜索的数据库。
相似文献
1
Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments.数据共享推动罕见病和被忽视疾病的临床研究与治疗。
ACS Pharmacol Transl Sci. 2019 Aug 22;2(6):491-496. doi: 10.1021/acsptsci.9b00034. eCollection 2019 Dec 13.
2
The project data sphere initiative: accelerating cancer research by sharing data.项目数据领域计划：通过数据共享加速癌症研究
Oncologist. 2015 May;20(5):464-e20. doi: 10.1634/theoncologist.2014-0431. Epub 2015 Apr 15.
4
Share and protect our health data: an evidence based approach to rare disease patients' perspectives on data sharing and data protection - quantitative survey and recommendations.分享和保护我们的健康数据：基于证据的罕见病患者对数据共享和数据保护观点 - 定量调查和建议。
Orphanet J Rare Dis. 2019 Jul 12;14(1):175. doi: 10.1186/s13023-019-1123-4.
5
Drugs for rare diseases: mixed assessment in Europe.罕见病药物：欧洲的综合评估
Prescrire Int. 2007 Feb;16(87):36-42.
7
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.PhenomeCentral：罕见遗传病患者表型与基因型匹配的门户网站。
Hum Mutat. 2015 Oct;36(10):931-40. doi: 10.1002/humu.22851. Epub 2015 Aug 31.
8
Personalizing rare disease research: how genomics is revolutionizing the diagnosis and treatment of rare disease.个性化罕见病研究：基因组学如何彻底改变罕见病的诊断和治疗。
Per Med. 2012 Nov;9(8):805-819. doi: 10.2217/pme.12.97.
9
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.通过在DECIPHER中进行有效的配对来促进罕见遗传病领域的合作。
Hum Mutat. 2015 Oct;36(10):941-9. doi: 10.1002/humu.22842. Epub 2015 Aug 20.
10
An innovative portal for rare genetic diseases research: the semantic Diseasecard.用于罕见遗传疾病研究的创新门户：语义疾病卡片。
J Biomed Inform. 2013 Dec;46(6):1108-15. doi: 10.1016/j.jbi.2013.08.006. Epub 2013 Aug 21.
引用本文的文献
1
Can Open Science Advance Health Justice? Genomic Research Dissemination in the Evolving Data-Sharing Landscape.开放科学能否推动健康公平？不断演变的数据共享格局下的基因组研究传播
Hastings Cent Rep. 2024 Dec;54 Suppl 2:S73-S83. doi: 10.1002/hast.4932.
2
Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers.未来在 APDS 和 IEI 的诊断和治疗中的方向：德国 IEI 中心的调查。
Front Immunol. 2023 Oct 5;14:1279652. doi: 10.3389/fimmu.2023.1279652. eCollection 2023.
3
Activated PI3Kδ syndrome - reviewing challenges in diagnosis and treatment.活化的 PI3Kδ 综合征 - 诊断和治疗中的挑战综述。
Front Immunol. 2023 Jul 20;14:1208567. doi: 10.3389/fimmu.2023.1208567. eCollection 2023.
4
Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.罕见病健康移民的文献综述——基于机器学习的视角。
Int J Environ Res Public Health. 2023 Jan 30;20(3):2483. doi: 10.3390/ijerph20032483.
本文引用的文献
1
eRepo-ORP: Exploring the Opportunity Space to Combat Orphan Diseases with Existing Drugs.eRepo-ORP：利用现有药物探索治疗罕见病的机会空间。
J Mol Biol. 2018 Jul 20;430(15):2266-2273. doi: 10.1016/j.jmb.2017.12.001. Epub 2017 Dec 10.
2
Identification of novel candidate disease genes from de novo exonic copy number variants.从新生外显子拷贝数变异中鉴定新的候选疾病基因。
Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7.
3
The importance of international collaboration for rare diseases research: a European perspective.国际合作在罕见病研究中的重要性：欧洲视角
Gene Ther. 2017 Sep;24(9):562-571. doi: 10.1038/gt.2017.29. Epub 2017 Jul 27.
4
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.罕见病临床实践指南：欧睿罕病数据库
PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
5
The Matchmaker Exchange: a platform for rare disease gene discovery.媒人交换平台：罕见病基因发现的平台。
Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.
6
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.媒人交换应用程序编程接口：通过结构化表型和基因型概况的交换实现患者匹配自动化。
Hum Mutat. 2015 Oct;36(10):922-7. doi: 10.1002/humu.22850.
7
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.PhenomeCentral：罕见遗传病患者表型与基因型匹配的门户网站。
Hum Mutat. 2015 Oct;36(10):931-40. doi: 10.1002/humu.22851. Epub 2015 Aug 31.
8
Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.咖啡变异组：用于在受限或开放访问环境中使基因型-表型数据可被发现的通用软件。
Hum Mutat. 2015 Oct;36(10):957-64. doi: 10.1002/humu.22841. Epub 2015 Aug 25.
9
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.基因匹配器：一种用于将对同一基因感兴趣的研究人员联系起来的匹配工具。
Hum Mutat. 2015 Oct;36(10):928-30. doi: 10.1002/humu.22844. Epub 2015 Aug 13.
10
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.通过在DECIPHER中进行有效的配对来促进罕见遗传病领域的合作。
Hum Mutat. 2015 Oct;36(10):941-9. doi: 10.1002/humu.22842. Epub 2015 Aug 20.
Zotero 插件