The role of biobanking in rare diseases: European consensus expert group report.
The role of biobanking in rare diseases: European consensus expert group report.
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DOI：
10.1089/bio.2010.7302
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发表时间：
2009-09-01
影响因子：
1.6
通讯作者：
Meitinger, Thomas
中科院分区：
文献类型：
--
作者：
Lochmuller, Hanns;Ayme, Segolene;Meitinger, Thomas
生物库对于罕见疾病的研究非常重要。在欧盟，有超过6,000种罕见疾病，至少有3000万人受到影响。欧盟委员会（EC）在最近的健康和研究计划中优先考虑罕见疾病。罕见疾病及其相关生物材料的罕见性和多样性为生物库带来了特定的挑战和机遇，需要跨国合作和协调。小样本甚至单个样本对于研究来说都是极其珍贵的。重要的是，大多数罕见疾病生物库通过患者和患者组织的积极参与来工作，并与他们分享利益。本文给出了与罕见病生物库相关的建议，反映了2008年12月17日至18日在慕尼黑举行的生物库和生物分子研究基础设施项目专家工作组的共识。
Biobanking is of high importance for research in rare diseases. There are>6,000 rare diseases with at least 30 million people affected in the European Union (EU). The European Commission (EC) has prioritized rare diseases in recent health and research programs. The rarity and diversity of rare diseases and their associated biomaterials harbor specific challenges and opportunities for biobanking requiring transnational collaboration and harmonization. Small collections or even individual samples may be extremely precious for research. Importantly, most rare disease biobanks work through the active participation of patients and patient organizations, and share benefits with them. This article gives recommendations related to rare disease biobanking reflecting consensus of an expert working group of the Biobank and Biomolecular Research Infrastructure program at a meeting in Munich on December 17-18, 2008.