Current trends in biobanking for rare diseases: a review

Rare diseases (RD) refer to a collection of approximately 5,000-8,000 individual diseases that have a low prevalence and are often genetic in origin. While RD can manifest throughout life, they frequently affect children and newborns. Common characteristics include being severe, disabling, life-thre...

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Published inJournal of biorepository science for applied medicine Vol. 2; p. 49
Main Authors Graham, Caroline E, Molster, Caron, Baynam, Gareth S, Bushby, Kate, Hansson, Mats, Kole, Anna, Mora, Marina, Monaco, Lucia, Bellgard, Matthew, Carpentieri, David, Posada, Manuel, Riess, Olaf, Rubinstein, Yaffa R, Schaefer, Franz, Taruscio, Domenica, Terry, Sharon F, Zatloukal, Kurt, Knoppers, Bartha, Lochmuller, Hanns, Dawkins, Hugh J.S
Format Journal Article
LanguageEnglish
Published Macclesfield Dove Medical Press Limited 01.01.2014
Taylor & Francis Ltd
Subjects
Biological products
Care and treatment
Charters
Congenital diseases
Consent
Ethics
Forecasts and trends
Genetic counseling
Genomics
Laboratories
Marketing
Medicine
Neuromuscular diseases
Pathology
Patients
Population
Precision medicine
Public health
R&D
Rare diseases
Research & development
Researchers
Tissue banks
Italy
Austria
Perth Western Australia Australia
Australia
United States > US
Germany
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Summary:Rare diseases (RD) refer to a collection of approximately 5,000-8,000 individual diseases that have a low prevalence and are often genetic in origin. While RD can manifest throughout life, they frequently affect children and newborns. Common characteristics include being severe, disabling, life-threatening, degenerative and affecting different organ systems. The burden of RD is often exacerbated by a lack of specific treatments. Whilst there is etiological heterogeneity, there is overlap in cellular and molecular pathways. Amongst specialists, there is legitimate hope that based on genetic knowledge and pathway definition, a new medical classification system, currently called "precision medicine", will be developed, which may change our view on how to apply shared therapeutic targets. Thus, collection of clinical and genetic data and biospecimens (in biobanks) will play an increasing role in diagnoses and development of therapies for RD. Biobanks are maintained collaboratively by researchers or their institutions, and involve a delicate balance between health policy objectives, academic research, public good outcomes, and community trust. Due to the nature of RD, international cooperation is critical for sharing limited numbers of RD samples and achieving a critical mass. Here we review the current and future direction of RD biobanks and discuss research and development stemming from the use of biospecimens to improve management of RD. Keywords: biobank, biospecimen, rare disease
ISSN:2253-1785
2253-1785
DOI:10.2147/BSAM.S46707