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

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

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

Gainotti, S, Torreri, P, Wang, CM, Reihs, R, Mueller, H, Heslop, E et al.. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Eur J Hum Genet. 2018.26 (5)631-643 PMID:29396563

Reza, M, Cox, D, Phillips, L, Johnson, D, Manoharan, V, Grieves, M et al.. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscul Disord. 2017.27 (11)1054-1064 PMID:28864117

Lochmüller, H, Schneiderat, P. Biobanking in rare disorders. Adv Exp Med Biol. 2010.686 105-13 PMID:20824442

Lochmüller, H, Aymé, S, Pampinella, F, Melegh, B, Kuhn, KA, Antonarakis, SE et al.. The role of biobanking in rare diseases: European consensus expert group report. Biopreserv Biobank. 2009.7 (3)155-6 PMID:24835882

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