Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.
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DOI：
10.1186/1750-1172-8-129
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发表时间：
2013-08-30
影响因子：
3.7
通讯作者：
Telethon Network of Genetic Biobanks Staff
中科院分区：
文献类型：
--
作者：
Filocamo M;Baldo C;Goldwurm S;Renieri A;Angelini C;Moggio M;Mora M;Merla G;Politano L;Garavaglia B;Casareto L;Bricarelli FD;Telethon Network of Genetic Biobanks Staff
有几个例子始终说明，获取大量生物标本和相关数据在查明疾病基因和开发药物方面发挥着关键作用。因此，遗传生物库使研究人员能够获得大量高质量的样本和数据，是罕见疾病基础、转化和临床研究的有力工具。最近，对注释良好和保存完好的标本的需求正在高速增长，预计未来几年还会增长。解决这一问题的最有效办法是通过建立网络来提高管理良好的生物库的潜力。在这里，我们报告了Telethon遗传生物库网络（TNGB）的5年经验，这是一个非营利性的意大利知识库协会，成立于2008年，形成了一个几乎独特的生物标本和相关数据目录，目前列出了750多种罕见的遗传缺陷。TNGB的统一进程主要是通过采用一个独特的、集中协调的信息技术基础设施来实现的，这使得：（一）TNGB所有程序和活动实现标准化;（二）根据最低限度的数据集和受控术语创建最新的TNGB在线目录;（三）通过门户网站上的共享请求控制面板管理样本访问政策。TNGB一直致力于向科学/生物医学-国家和国际-以及病人和家属协会传播关于其服务的信息。事实上，在过去五年中，国家和国际科学家出于不同目的广泛使用TNGB，发表了250多篇科学出版物。此外，自成立以来，TNGB是生物库和生物分子资源研究基础设施的联系成员，最近加入了欧洲生物库网络。此外，患者和家属的参与导致TNGB与患者协会之间的各种协议正式化，这表明促进生物库服务如何有助于获得研究所需的临界量样本，以及提高公众对生物库的认识、信任和兴趣。本文重点介绍了网络的一些基本方面，并展示了转化研究如何从持续的基础设施中受益。
Several examples have always illustrated how access to large numbers of biospecimens and associated data plays a pivotal role in the identification of disease genes and the development of pharmaceuticals. Hence, allowing researchers to access to significant numbers of quality samples and data, genetic biobanks are a powerful tool in basic, translational and clinical research into rare diseases. Recently demand for well-annotated and properly-preserved specimens is growing at a high rate, and is expected to grow for years to come. The best effective solution to this issue is to enhance the potentialities of well-managed biobanks by building a network. Here we report a 5-year experience of the Telethon Network of Genetic Biobanks (TNGB), a non-profit association of Italian repositories created in 2008 to form a virtually unique catalogue of biospecimens and associated data, which presently lists more than 750 rare genetic defects. The process of TNGB harmonisation has been mainly achieved through the adoption of a unique, centrally coordinated, IT infrastructure, which has enabled (i) standardisation of all the TNGB procedures and activities; (ii) creation of an updated TNGB online catalogue, based on minimal data set and controlled terminologies; (iii) sample access policy managed via a shared request control panel at web portal. TNGB has been engaged in disseminating information on its services into both scientific/biomedical - national and international - contexts, as well as associations of patients and families. Indeed, during the last 5-years national and international scientists extensively used the TNGB with different purposes resulting in more than 250 scientific publications. In addition, since its inception the TNGB is an associated member of the Biobanking and Biomolecular Resources Research Infrastructure and recently joined the EuroBioBank network. Moreover, the involvement of patients and families, leading to the formalization of various agreements between TNGB and Patients’ Associations, has demonstrated how promoting Biobank services can be instrumental in gaining a critical mass of samples essential for research, as well as, raising awareness, trust and interest of the general public in Biobanks. This article focuses on some fundamental aspects of networking and demonstrates how the translational research benefits from a sustained infrastructure.
影响因子：
5.2
作者：
Ayme, S
通讯作者：
Ayme, S
影响因子：
1.6
作者：
Lochmuller, Hanns;Ayme, Segolene;Meitinger, Thomas
通讯作者：
Meitinger, Thomas