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dc.contributor.authorBoycott, K.
dc.contributor.authorRath, A.
dc.contributor.authorChong, J.
dc.contributor.authorHartley, T.
dc.contributor.authorAlkuraya, F.
dc.contributor.authorBaynam, Gareth
dc.contributor.authorBrookes, A.
dc.contributor.authorBrudno, M.
dc.contributor.authorCarracedo, A.
dc.contributor.authorden Dunnen, J.
dc.contributor.authorDyke, S.
dc.contributor.authorEstivill, X.
dc.contributor.authorGoldblatt, J.
dc.contributor.authorGonthier, C.
dc.contributor.authorGroft, S.
dc.contributor.authorGut, I.
dc.contributor.authorHamosh, A.
dc.contributor.authorHieter, P.
dc.contributor.authorHöhn, S.
dc.contributor.authorHurles, M.
dc.contributor.authorKaufmann, P.
dc.contributor.authorKnoppers, B.
dc.contributor.authorKrischer, J.
dc.contributor.authorMacek, M.
dc.contributor.authorMatthijs, G.
dc.contributor.authorOlry, A.
dc.contributor.authorParker, S.
dc.contributor.authorPaschall, J.
dc.contributor.authorPhilippakis, A.
dc.contributor.authorRehm, H.
dc.contributor.authorRobinson, P.
dc.contributor.authorSham, P.
dc.contributor.authorStefanov, R.
dc.contributor.authorTaruscio, D.
dc.contributor.authorUnni, D.
dc.contributor.authorVanstone, M.
dc.contributor.authorZhang, F.
dc.contributor.authorBrunner, H.
dc.contributor.authorBamshad, M.
dc.contributor.authorLochmüller, H.
dc.date.accessioned2018-12-13T09:14:51Z
dc.date.available2018-12-13T09:14:51Z
dc.date.created2018-12-12T02:46:55Z
dc.date.issued2017
dc.identifier.citationBoycott, K. and Rath, A. and Chong, J. and Hartley, T. and Alkuraya, F. and Baynam, G. and Brookes, A. et al. 2017. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. American Journal of Human Genetics. 100 (5): pp. 695-705.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/72942
dc.identifier.doi10.1016/j.ajhg.2017.04.003
dc.description.abstract

© 2017 The Author(s) Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,” improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases. Thus, continued research is required for moving toward a more complete catalog of disease-related genes and variants. The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to bring together researchers and organizations invested in rare disease research to develop a means of achieving molecular diagnosis for all rare diseases. Here, we review the current and future bottlenecks to gene discovery and suggest strategies for enabling progress in this regard. Each successful discovery will define potential diagnostic, preventive, and therapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patient population.

dc.publisherCell Press
dc.titleInternational Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
dc.typeJournal Article
dcterms.source.volume100
dcterms.source.number5
dcterms.source.startPage695
dcterms.source.endPage705
dcterms.source.issn0002-9297
dcterms.source.titleAmerican Journal of Human Genetics
curtin.departmentSchool of Earth and Planetary Sciences (EPS)
curtin.accessStatusFulltext not available


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