The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
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DOI：
10.1038/s41431-017-0008-z
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发表时间：
2017-12-01
影响因子：
5.2
通讯作者：
Boycott, Kym M.
中科院分区：
文献类型：
--
作者：
Lochmueller, Hanns;Torrent i Farnell, Josep;Boycott, Kym M.
国际罕见病研究联盟(IRDiRC)在2012年和2013年进行了广泛的审议和讨论后，同意了IRDiRC的政策和指导方针，作为改善全球研究工作协调的第一步。IRDiRC是一个研究资助者联盟，专注于改善罕见疾病患者的诊断和治疗。IRDiRC的25个资助成员和3个患者伞式组织(截至2013年初)于2013年4月在爱尔兰都柏林就政策和指南达成一致，这些政策和指南强调罕见疾病研究中的合作，患者及其代表参与研究的所有相关方面，以及数据和资源共享。这些政策和指南提供了关于本体论、诊断学、生物标记物、患者登记、生物库、自然病史、治疗学、模型、出版物、知识产权和交流的指导。自那以后，大多数IRDiRC成员--目前有近50人--在他们的筹资呼吁中纳入了它的政策，一些人选择了超过规定的要求，例如与数据共享有关的要求。IRDiRC政策和指南是全球主要公共和私人资助组织为管理罕见疾病研究而达成的第一份详细协议，并可能成为国际研究合作的其他领域的模板。虽然现在评估它们对研究生产率和患者利益的全面影响还为时过早，但IRDiRC的政策和指南已经为提高罕见疾病研究的透明度和协作性做出了重大贡献。
The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. The 25 funding members and 3 patient umbrella organizations (as of early 2013) of IRDiRC, a consortium of research funders that focuses on improving diagnosis and therapy for rare disease patients, agreed in Dublin, Ireland in April 2013 on the Policies and Guidelines that emphasize collaboration in rare disease research, the involvement of patients and their representatives in all relevant aspects of research, as well as the sharing of data and resources. The Policies and Guidelines provide guidance on ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication, intellectual property, and communication. Most IRDiRC members-currently nearly 50 strong-have since incorporated its policies in their funding calls and some have chosen to exceed the requirements laid out, for instance in relation to data sharing. The IRDiRC Policies and Guidelines are the first, detailed agreement of major public and private funding organizations worldwide to govern rare disease research, and may serve as a template for other areas of international research collaboration. While it is too early to assess their full impact on research productivity and patient benefit, the IRDiRC Policies and Guidelines have already contributed significantly to improving transparency and collaboration in rare disease research.