The challenge for a European network of biobanks for rare diseases taken up by RD-Connect.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology
Lucia MonacoChiuhui Mary Wang

Abstract

Access to biological materials is a key prerequisite for scientific research in any medical field and in particular for research into rare diseases (RDs), for which obtaining high-quality samples and the related clinical data remains a major hurdle. RD biobanks play a pivotal role in making such materials and data available to the scientific community. In order to increase the effectiveness of RD biobanks, three major challenges need to be met: maximise access to rare biological samples stored in RD biobanks spread globally by the international scientific community, promote networking among such biobanks to share quality standards and procedures and allow collaboration with RD registries and databases, and finally adopt an efficient management model compliant with legal and ethical issues and ensuring biobank sustainability. The European program RD-Connect, funded under the FP7 program, addresses all of these issues through an articulated action plan aimed at building a network of European RD biobanks. Ultimately, RD-Connect will offer access to precious, quality-controlled biological samples from RD patients through an online, searchable, dynamic catalogue in the context of an integrated platform that links RD patient registri...Continue Reading

Citations

Apr 2, 2016·Nature Reviews. Neurology·Rachel Thompson, Volker Straub
Feb 6, 2018·European Journal of Human Genetics : EJHG·Sabina GainottiDomenica Taruscio
Sep 21, 2019·European Journal of Human Genetics : EJHG·Adam L HartmanRosario Isasi
May 31, 2019·Orphanet Journal of Rare Diseases·Jean-Michel HeardUNKNOWN MetabERN collaboration group

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Software Mentioned

IRDiRC
Orphanet
TREAT
Connect
NMD
RD

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