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Title: International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Authors: Boycott, K. M.
Rath, A.
Chong, J. X.
Hartley, T.
Alkuraya, F. S.
Baynam, G.
Brookes, Anthony J.
Brudno, M.
Carracedo, A.
den Dunnen, JT
Dyke, S. O. M.
Estivill, X.
Goldblatt, J.
Gonthier, C.
Groft, SC
Gut, I.
Hamosh, A.
Hieter, P.
Höhn, S.
Hurles, M. E.
Kaufmann, P.
Knoppers, B. M.
Krischer, J. P.
Macek, M.
Matthijs, G.
Olry, A.
Parker, S.
Paschall, J.
Philippakis, A .A.
Rehm, H. L.
Robinson, P. N.
Sham, P-C.
Stefanov, R.
Taruscio, D.
Unni, D.
Vanstone, M. R.
Zhang, F.
Brunner, H.
Bamshad, M. J.
Lochmüller, H.
First Published: 4-May-2017
Publisher: Elsevier
Citation: American Journal of Human Genetics, 2017, 100 (5), pp. 695-705
Abstract: 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.
DOI Link: 10.1016/j.ajhg.2017.04.003
ISSN: 0002-9297
eISSN: 1537-6605
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2017. This is an open-access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Appears in Collections:Published Articles, Dept. of Biology

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