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    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    Access Status
    Fulltext not available
    Authors
    Boycott, K.
    Rath, A.
    Chong, J.
    Hartley, T.
    Alkuraya, F.
    Baynam, Gareth
    Brookes, A.
    Brudno, M.
    Carracedo, A.
    den Dunnen, J.
    Dyke, S.
    Estivill, X.
    Goldblatt, J.
    Gonthier, C.
    Groft, S.
    Gut, I.
    Hamosh, A.
    Hieter, P.
    Höhn, S.
    Hurles, M.
    Kaufmann, P.
    Knoppers, B.
    Krischer, J.
    Macek, M.
    Matthijs, G.
    Olry, A.
    Parker, S.
    Paschall, J.
    Philippakis, A.
    Rehm, H.
    Robinson, P.
    Sham, P.
    Stefanov, R.
    Taruscio, D.
    Unni, D.
    Vanstone, M.
    Zhang, F.
    Brunner, H.
    Bamshad, M.
    Lochmüller, H.
    Date
    2017
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Boycott, 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.
    Source Title
    American Journal of Human Genetics
    DOI
    10.1016/j.ajhg.2017.04.003
    ISSN
    0002-9297
    School
    School of Earth and Planetary Sciences (EPS)
    URI
    http://hdl.handle.net/20.500.11937/72942
    Collection
    • Curtin Research Publications
    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.

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