A generalizable pre-clinical research approach for orphan disease therapy

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dc.contributor.authorBeaulieu, Chandree L
dc.contributor.authorSamuels, Mark E
dc.contributor.authorEkins, Sean
dc.contributor.authorMcMaster, Christopher R
dc.contributor.authorEdwards, Aled M
dc.contributor.authorKrainer, Adrian R
dc.contributor.authorHicks, Geoffrey G
dc.contributor.authorFrey, Brendan J
dc.contributor.authorBoycott, Kym M
dc.contributor.authorMacKenzie, Alex E
dc.date.accessioned2012-09-26T15:01:44Z
dc.date.available2012-09-26T15:01:44Z
dc.date.issued2012-06-15
dc.date.updated2012-09-26T15:01:44Z
dc.description.abstractAbstractWith the advent of next-generation DNA sequencing, the pace of inherited orphan disease gene identification has increased dramatically, a situation that will continue for at least the next several years. At present, the numbers of such identified disease genes significantly outstrips the number of laboratories available to investigate a given disorder, an asymmetry that will only increase over time. The hope for any genetic disorder is, where possible and in addition to accurate diagnostic test formulation, the development of therapeutic approaches. To this end, we propose here the development of a strategic toolbox and preclinical research pathway for inherited orphan disease. Taking much of what has been learned from rare genetic disease research over the past two decades, we propose generalizable methods utilizing transcriptomic, system-wide chemical biology datasets combined with chemical informatics and, where possible, repurposing of FDA approved drugs for pre-clinical orphan disease therapies. It is hoped that this approach may be of utility for the broader orphan disease research community and provide funding organizations and patient advocacy groups with suggestions for the optimal path forward. In addition to enabling academic pre-clinical research, strategies such as this may also aid in seeding startup companies, as well as further engaging the pharmaceutical industry in the treatment of rare genetic disease.
dc.description.versionPeer Reviewed
dc.identifier.citationOrphanet Journal of Rare Diseases. 2012 Jun 15;7(1):39
dc.identifier.doihttp://dx.doi.org/10.1186/1750-1172-7-39
dc.identifier.urihttp://hdl.handle.net/1993/9153
dc.language.rfc3066en
dc.rightsopen accessen_US
dc.rights.holderChandree L Beaulieu et al.; licensee BioMed Central Ltd.
dc.titleA generalizable pre-clinical research approach for orphan disease therapy
dc.typeJournal Article
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