International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
© 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 choi...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal Article |
| Published: |
Cell Press
2017
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| Online Access: | http://hdl.handle.net/20.500.11937/72942 |
| _version_ | 1848762882599157760 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Boycott, K. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | © 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. |
| first_indexed | 2025-11-14T10:54:38Z |
| format | Journal Article |
| id | curtin-20.500.11937-72942 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T10:54:38Z |
| publishDate | 2017 |
| publisher | Cell Press |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-729422018-12-13T09:34:10Z International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases 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. © 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. 2017 Journal Article http://hdl.handle.net/20.500.11937/72942 10.1016/j.ajhg.2017.04.003 Cell Press restricted |
| spellingShingle | 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. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases |
| title | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases |
| title_full | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases |
| title_fullStr | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases |
| title_full_unstemmed | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases |
| title_short | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases |
| title_sort | international cooperation to enable the diagnosis of all rare genetic diseases |
| url | http://hdl.handle.net/20.500.11937/72942 |