The Biobank of Genetic Samples (BIOGEN) was officially established in 2013 at the Department of Rare Skeletal Disorders. The mission of BIOGEN is to contribute to improve diagnosis, research and treatment for rare hereditary diseases, also including some oncological ones, by providing biobanking services.
Definition of Biobank
A biobank is defined as "a collection of biological material and of the associated data and information stored in an organised system, for a population or a large subset of a population" (OECD 2006). The biobank is therefore a non-profit service unit, responsible for the organized collection and storage of biological materials (such as blood, tissue, cells and DNA) and the associated data, to be used for diagnosis and/or research. In particular, a Rare Disease Biobank is defined as any kind of systematic, open-for-collaboration register of biological specimens for clinical research with a clear orientation towards the field of rare diseases (Orphanet).
The Establishment of BIOGEN
Officially constituted in 2013, BIOGEN has been collecting since 2008 a considerable number of rare disease biological samples which constitute an excellent resource for the scientific community. To improve the high quality of the collected biospecimens, BIOGEN collaborates with the Diseases Registries established at the Rizzoli, in order to integrate the already precious biological material with further information on clinical, genetic and family data of the users. The integrated activities between BIOGEN and the Disease Registries on a specific disease represent an excellent resource not only for scientific research, but also for the improvement of diagnosis and treatment of these complex disorders.
BIOGEN provides services for the collection, processing, storage and distribution of human biological samples and related data, for diagnostic and research purposes, as well as for the management of samples deriving from clinical trials, and storage of samples for third parties.
BIOGEN stores more than 5.000 biospecimens, including peripheral blood samples and DNAs, lymphocytes, sera, RNAs, surgical and/or bioptic tissues.
Networking activities
In November 2013, BIOGEN became part of the Italian node of the European infrastructure BBMRI (Biobanking and Biomolecular Resources Research Infrastructure) and thanks to its potential for the study of rare musculoskeletal diseases, one year later, it joined the Telethon Network of Genetic Biobanks (TNGB) whose coordination is in charge of BIOGEN since 2018.
The sample catalogue of the eleven rare disease biobanks that are part of TNGB can be consulted on the network website, where it is possible to browse the availability of biological samples for a specific genetic disease and to request them for research or diagnostic purposes.
BIOGEN also coordinates the Rizzoli Biological Resources Centre (CRB), in charge of the Rizzoli's Scientific Director.