Biobanks are organized collections of biomaterial samples available for research. In rare diseases, the number of available biosamples is often very limited, which hinders research into disease pathogenesis and mechanisms and therapy development. Making rare disease blood, DNA, urine and tissue samples accessible for reuse is thus particularly important, as each sample is of great value.

Hanns has a longstanding interest in developing the infrastructure to improve the availability of biosamples and was scientific coordinator of the EuroBioBank network between 2005 and 2012. Within RD-Connect, the international rare disease infrastructure initiated by Hanns in 2012, improved networking, standardized protocols and detailed international cataloguing methods were developed, enabling researchers to locate and request the samples they need.

As well as the infrastructural component and focus on sample sharing for research, Hanns has established biobanks for his own research groups, making their samples accessible to researchers worldwide. In Munich, Germany, he initiated the Muscle Tissue Culture Collection (MTCC) at the Friedrich-Baur Institute. While in Newcastle, UK, he was responsible for the coordination of the MRC Centre Neuromuscular Biobank, a joint initiative between Newcastle and London which supported and facilitated rare and neuromuscular disease research worldwide.

In Ottawa, biobanking facilities are being established at the newly launched Neuromuscular Research Centre, enabling Canadian participants to allow their biosamples to be banked for inclusion in research related to their condition.

Read about the importance of international networks of biobanks and the EuroBioBank network here.

Researcher wearing gloves arranging blood sample tubes in a rack

Relevant publications

Weisburd, B, Sharma, R, Pata, V, Reimand, T, Ganesh, VS, Austin-Tse, C et al.. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv. 2024. PMID:38405995

Devereux, L, Watson, PH, Mes-Masson, AM, Luna-Crespo, F, Thomas, G, Pitman, H et al.. A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review. Biopreserv Biobank. 2019.17 (6)512-519 PMID:31794678

Mingirulli, N, Pyle, A, Hathazi, D, Alston, CL, Kohlschmidt, N, O'Grady, G et al.. Clinical presentation and proteomic signature of patients with TANGO2 mutations. J Inherit Metab Dis. 2020.43 (2)297-308 PMID:31339582

Ambrosini, A, Quinlivan, R, Sansone, VA, Meijer, I, Schrijvers, G, Tibben, A et al.. "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. Orphanet J Rare Dis. 2019.14 (1)126 PMID:31174585

Lochmüller, H, Ambrosini, A, van Engelen, B, Hansson, M, Tibben, A, Breukel, A et al.. The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018. J Neuromuscul Dis. 2019.6 (1)161-172 PMID:30714970

Kodra, Y, Weinbach, J, Posada-de-la-Paz, M, Coi, A, Lemonnier, SL, van Enckevort, D et al.. Recommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018.15 (8) PMID:30081484

Spitali, P, Hettne, K, Tsonaka, R, Charrout, M, van den Bergen, J, Koeks, Z et al.. Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies. J Cachexia Sarcopenia Muscle. 2018.9 (4)715-726 PMID:29682908

Lochmüller, H, Badowska, DM, Thompson, R, Knoers, NV, Aartsma-Rus, A, Gut, I et al.. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur J Hum Genet. 2018.26 (6)778-785 PMID:29487416

Lochmüller, H, Le Cam, Y, Jonker, AH, Lau, LP, Baynam, G, Kaufmann, P et al.. 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur J Hum Genet. 2017.25 (2)162-165 PMID:27782107

Mora, M, Angelini, C, Bignami, F, Bodin, AM, Crimi, M, Di Donato, JH et al.. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet. 2015.23 (9)1116-23 PMID:25537360