期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 100, 期 5, 页码 695-705出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2017.04.003
关键词
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资金
- AFM-Telethon
- European Union [677024/RD-ACTION, 305444, 305121]
- Care4Rare Canada Consortium
- Genome Canada
- Canadian Institutes of Health Research
- Ontario Genomics Institute
- Ontario Research Fund
- Genome Quebec
- Children's Hospital of Eastern Ontario Foundation
- University of Washington Center for Mendelian Genomics though National Human Genome Research Institute (NHGRI)
- National Heart, Lung, and Blood Institute [U54HG006493]
- OMIM through NHGRI grant [1U41HG006627]
- Baylor-Hopkins Center for Mendelian Genomics through NHGRI grant [1U54HG006542]
- Medical Research Council [G1002274, 98482]
- Wellcome Trust [201064/Z/16/Z]
- [00064203]
- [16-30880A]
- [15-34904A]
- [OPPK CZ.2.16/3.1.00/24022]
- [NF-CZ11-PDP-3-003-2014]
- [UM1HG008900]
- Wellcome Trust [201064/Z/16/Z] Funding Source: Wellcome Trust
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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