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Lochmüller, H.* ; Aymé, S.* ; Pampinella, F.* ; Melegh, B.* ; Kuhn, K.A.* ; Antonarakis, S.E.* ; Meitinger, T.

The role of biobanking in rare diseases: European consensus expert group report.

Biopreserv. Biobank. 7, 155-156 (2009)

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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.

Abstract
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Biobanking is of high importance for research in rare diseases. There are >6,000 rare diseases with at least 30 million people affected in the European Union (EU). The European Commission (EC) has prioritized rare diseases in recent health and research programs. The rarity and diversity of rare diseases and their associated biomaterials harbor specific challenges and opportunities for biobanking requiring transnational collaboration and harmonization. Small collections or even individual samples may be extremely precious for research. Importantly, most rare disease biobanks work through the active participation of patients and patient organizations, and share benefits with them. This article gives recommendations related to rare disease biobanking reflecting consensus of an expert working group of the Biobank and Biomolecular Research Infrastructure program at a meeting in Munich on December 17-18, 2008.

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