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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
KM. Boycott, A. Rath, JX. Chong, T. Hartley, FS. Alkuraya, G. Baynam, AJ. Brookes, M. Brudno, A. Carracedo, JT. den Dunnen, SOM. Dyke, X. Estivill, J. Goldblatt, C. Gonthier, SC. Groft, I. Gut, A. Hamosh, P. Hieter, S. Höhn, ME. Hurles, P....
Language English Country United States
Document type Journal Article
NLK
Cell Press Free Archives
from 1997-01-01 to 6 months ago
Free Medical Journals
from 1949 to 6 months ago
PubMed Central
from 1949 to 6 months ago
Europe PubMed Central
from 1949 to 6 months ago
Open Access Digital Library
from 2005-01-01
- MeSH
- Databases, Factual MeSH
- Exome MeSH
- Genome, Human MeSH
- Humans MeSH
- International Cooperation * MeSH
- Rare Diseases diagnosis genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
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.
Broad Institute of MIT and Harvard Cambridge MA 02142 USA
Center for Human Genetics University of Leuven 3000 Leuven Belgium
Centre for Genomic Sciences University of Hong Kong Hong Kong China
Department of Computer Science University of Toronto Toronto M5S 1A1 Canada
Department of Genetics King Faisal Research Center Riyadh 11211 Saudi Arabia
Department of Genetics University of Leicester Leicester LE1 7RH UK
Department of Human Genetics Radboud University Medical Center 6525 GA Nijmegen the Netherlands
Department of Pediatrics University of Washington Seattle WA 98195 USA
Division of Genetic Medicine Seattle Children's Hospital Seattle WA 98105 USA
Experimental Division Sidra Medical and Research Center PO Box 26999 Doha Qatar
Genetic Services of Western Australia Perth WA 6008 Australia
Genetics Unit Dexeus Woman's Health 08028 Barcelona Spain
Jackson Laboratory for Genomic Medicine Farmington CT 06032 USA
Lysogene 92 200 Neuilly sur Seine France
National Centre for Rare Diseases Istituto Superiore di Sanità Rome 299 00161 Italy
Orphanet Institut National de la Santé et de la Recherche Médicale US14 75014 Paris France
Saudi Human Genome Program King Abdulaziz City for Science and Technology Riyadh 11442 Saudi Arabia
University of South Florida Health Informatics Institute Tampa FL 33620 USA
Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton CB10 1SA UK
WuXi AppTec Waigaoqiao Free Trade Zone Shanghai 200131 China
References provided by Crossref.org
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