Telethon Network of Genetic Biobanks

The Telethon Network of Genetic Biobanks (TNGB), presently composed of 11 Italian Biobanks, was founded in 2008 in the framework of a research project financially by Fondazione Telethon.

Currently, TNGB stores about 100,000 biological samples representing approximately 950 distinct rare genetic diseases.

Responsibilities for harmonisation and standardisation – with regard to the collection, preparation, transport, storage, and distribution of samples – have been shared by all partners and are stated in the Network Charter.

One of its main aims was to interconnect already well-established Italian Genetic Biobanks, most of which have been operating since the 1970s-1980s, through a unique and centrally coordinated IT infrastructure designed to centralise and provide to the Scientific Community with an effective service responding to the highest quality standards, according to rigorous ethical principles complying with Italian laws and international recommendations.

Over the years, national and international scientists have extensively used the TNGB services with different purposes. The complete list of the scientific publications acknowledging the TNGB services is available here.

Another central aim was to promote the Biobanks’ services within rare-disease patient organisations, with the goal of facilitating their active participation and sharing benefits with them in terms of research findings.

Within the National and European biobanking framework, TNGB has become a leading player thanks to its active interaction with BBMRI-ERIC infrastructure, Italian Node BBMRI.it, EuroBioBank network and RD-Connect platform which aims at connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

TNGB published on its own 5-year experience in 2013 (Filocamo et al, Orphanet J Rare Dis. 2013;8:129) and on its experience within EuroBioBank in 2015 (Mora et al, Eur J Hum Genet. 2015;23:1116-23).

Oral and poster presentations on TNGB activities in national and international scientific events, as well as in those for patient organisations and lay public, are available in Documents-Outreach material).