Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

Orphanet Journal of Rare Diseases

for Telethon Network of Genetic Biobanks Staff  Francesca Dagna Bricarelli^1,11  Lorena Casareto⁴  Barbara Garavaglia¹  Luisa Politano²  Giuseppe Merla⁵  Marina Mora⁹  Maurizio Moggio⁶  Corrado Angelini^1,12  Alessandra Renieri⁸  Stefano Goldwurm^1,10  Chiara Baldo⁷  Mirella Filocamo³ 

[1] UO Neurogenetica Molecolare, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy;Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli e Azienda Ospedaliera Universitaria SUN, Napoli, Italy;UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy;Ufficio Coordinamento Network, c/o UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy;Unità di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy;UOD Diagnostica Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy;SC Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy;UOC Genetica Medica, Dipartimento di Biotecnologie Mediche, Università di Siena e Azienda Ospedaliera Universitaria Senese, Siena, Italy;Laboratorio di Biologia Cellulare, UO Malattie Neuromuscolari e Neuroimmunologia, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy;Centro Parkinson, Istituti Clinici di Perfezionamento, Milano, Italy;Dipartimento Ligure di Genetica, c/o E.O. Ospedali Galliera, Genova, Italy;Dipartimento di Neuroscienze SNPSRR, Università di Padova, IRCSS San Camillo, Venezia, Italy

关键词: Patients’ associations;    Rare diseases;    Cryopreservation;    Biospecimens;    Biological material;    IT infrastructure;    Biological resources centre;    Networking;    Biobanking;   

Others  :  863588
DOI  :  10.1186/1750-1172-8-129

 received in 2013-06-14, accepted in 2013-08-28,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Filocamo et al.; licensee BioMed Central Ltd.

【 图 表 】

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