The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect
The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect
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DOI：
10.1159/000358492
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发表时间：
2014-01-01
期刊：
影响因子：
5
通讯作者：
Wang, Chiuhui Mary
中科院分区：
文献类型：
--
作者：
Monaco, Lucia;Crimi, Marco;Wang, Chiuhui Mary
获取生物材料是任何医学领域科学研究的一个关键先决条件，特别是对罕见疾病的研究，获取高质量的样本和相关的临床数据仍然是一个主要障碍。研发生物库在向科学界提供此类材料和数据方面发挥着关键作用。为了提高研发生物库的有效性，需要应对三大挑战：最大限度地获取国际科学界分布在全球的研发生物库中储存的稀有生物样本，促进此类生物库之间的联网，以共享质量标准和程序，并允许与研发登记处和数据库合作，最终采用符合法律的和伦理问题的高效管理模式，确保生物库的可持续性。由FP 7计划资助的欧洲项目RD-Connect通过旨在建立欧洲研发生物库网络的明确行动计划解决了所有这些问题。最终，RD-Connect将通过在线、可搜索、动态目录，在将RD患者登记与生物库和RD研究的临床生物信息学数据联系起来的集成平台背景下，提供对来自RD患者的珍贵、质量受控生物样本的访问。(C)2015 S. Karger AG，巴塞尔
Access to biological materials is a key prerequisite for scientific research in any medical field and in particular for research into rare diseases (RDs), for which obtaining high-quality samples and the related clinical data remains a major hurdle. RD biobanks play a pivotal role in making such materials and data available to the scientific community. In order to increase the effectiveness of RD biobanks, three major challenges need to be met: maximise access to rare biological samples stored in RD biobanks spread globally by the international scientific community, promote networking among such biobanks to share quality standards and procedures and allow collaboration with RD registries and databases, and finally adopt an efficient management model compliant with legal and ethical issues and ensuring biobank sustainability. The European program RD-Connect, funded under the FP7 program, addresses all of these issues through an articulated action plan aimed at building a network of European RD biobanks. Ultimately, RD-Connect will offer access to precious, quality-controlled biological samples from RD patients through an online, searchable, dynamic catalogue in the context of an integrated platform that links RD patient registries to biobanks and to clinical bioinformatics data for RD research. (C) 2015 S. Karger AG, Basel