Literature DB >> 20824442

Biobanking in rare disorders.

Hanns Lochmüller1, Peter Schneiderat.   

Abstract

Biobanks are collections of biomaterials with associated data. Biobanking is an essential tool to provide access to high quality human biomaterial for fundamental and translational research. Research for rare disorders benefits from the provision of human biomaterials through biobanks, and each human sample from a person with a rare disorder has a high value as it may hold the key to answer an important research question. Transnational cooperation in biobanking is an important catalyst to share limited resources and achieve optimal outcomes as in other areas of rare disorder research. Networks of biobanks aim to assure common practices and quality standards, and facilitate access to rare disorder biomaterials for the scientific community.

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Year:  2010        PMID: 20824442     DOI: 10.1007/978-90-481-9485-8_7

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  8 in total

1.  The Future of Biobanking: What Is Next?

Authors:  Luciana Caenazzo; Pamela Tozzo
Journal:  BioTech (Basel)       Date:  2020-11-23

Review 2.  RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

Authors:  Rachel Thompson; Louise Johnston; Domenica Taruscio; Lucia Monaco; Christophe Béroud; Ivo G Gut; Mats G Hansson; Peter-Bram A 't Hoen; George P Patrinos; Hugh Dawkins; Monica Ensini; Kurt Zatloukal; David Koubi; Emma Heslop; Justin E Paschall; Manuel Posada; Peter N Robinson; Kate Bushby; Hanns Lochmüller
Journal:  J Gen Intern Med       Date:  2014-08       Impact factor: 5.128

3.  The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Authors:  Marina Mora; Corrado Angelini; Fabrizia Bignami; Anne-Mary Bodin; Marco Crimi; Jeanne-Hélène Di Donato; Alex Felice; Cécile Jaeger; Veronika Karcagi; Yann LeCam; Stephen Lynn; Marija Meznaric; Maurizio Moggio; Lucia Monaco; Luisa Politano; Manuel Posada de la Paz; Safaa Saker; Peter Schneiderat; Monica Ensini; Barbara Garavaglia; David Gurwitz; Diana Johnson; Francesco Muntoni; Jack Puymirat; Mojgan Reza; Thomas Voit; Chiara Baldo; Franca Dagna Bricarelli; Stefano Goldwurm; Giuseppe Merla; Elena Pegoraro; Alessandra Renieri; Kurt Zatloukal; Mirella Filocamo; Hanns Lochmüller
Journal:  Eur J Hum Genet       Date:  2014-12-24       Impact factor: 4.246

Review 4.  The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.

Authors:  Emma Heslop; Cristina Csimma; Volker Straub; John McCall; Kanneboyina Nagaraju; Kathryn R Wagner; Didier Caizergues; Rudolf Korinthenberg; Kevin M Flanigan; Petra Kaufmann; Elizabeth McNeil; Jerry Mendell; Sharon Hesterlee; Dominic J Wells; Kate Bushby
Journal:  Orphanet J Rare Dis       Date:  2015-04-23       Impact factor: 4.123

Review 5.  Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine.

Authors:  Basri Gülbakan; Rıza Köksal Özgül; Ayşe Yüzbaşıoğlu; Matthias Kohl; Hans-Peter Deigner; Meral Özgüç
Journal:  EPMA J       Date:  2016-12-08       Impact factor: 6.543

Review 6.  The challenge for a European network of biobanks for rare diseases taken up by RD-Connect.

Authors:  Lucia Monaco; Marco Crimi; Chiuhui Mary Wang
Journal:  Pathobiology       Date:  2015-03-16       Impact factor: 4.342

7.  Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes.

Authors:  Ebba Lohmann; Thomas Gasser; Kathrin Grundmann
Journal:  Front Neurol       Date:  2017-01-30       Impact factor: 4.003

Review 8.  Bio-collections in autism research.

Authors:  Jamie Reilly; Louise Gallagher; June L Chen; Geraldine Leader; Sanbing Shen
Journal:  Mol Autism       Date:  2017-07-10       Impact factor: 7.509

  8 in total

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