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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Identifieur interne : 000C07 ( PubMed/Curation ); précédent : 000C06; suivant : 000C08

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Auteurs : Kym M. Boycott [Canada] ; Ana Rath [France] ; Jessica X. Chong [États-Unis] ; Taila Hartley [Canada] ; Fowzan S. Alkuraya [Arabie saoudite] ; Gareth Baynam [Australie] ; Anthony J. Brookes [Royaume-Uni] ; Michael Brudno [Canada] ; Angel Carracedo [Espagne] ; Johan T. Den Dunnen [Pays-Bas] ; Stephanie O M. Dyke [Canada] ; Xavier Estivill [Espagne] ; Jack Goldblatt [Australie] ; Catherine Gonthier [France] ; Stephen C. Groft [États-Unis] ; Ivo Gut [Espagne] ; Ada Hamosh [États-Unis] ; Philip Hieter [Canada] ; Sophie Höhn [France] ; Matthew E. Hurles [Royaume-Uni] ; Petra Kaufmann [États-Unis] ; Bartha M. Knoppers [Canada] ; Jeffrey P. Krischer [États-Unis] ; Milan Macek [République tchèque] ; Gert Matthijs [Belgique] ; Annie Olry [France] ; Samantha Parker [France] ; Justin Paschall [Royaume-Uni] ; Anthony A. Philippakis [États-Unis] ; Heidi L. Rehm [États-Unis] ; Peter N. Robinson [États-Unis] ; Pak-Chung Sham [République populaire de Chine] ; Rumen Stefanov [Bulgarie] ; Domenica Taruscio [Italie] ; Divya Unni [France] ; Megan R. Vanstone [Canada] ; Feng Zhang [États-Unis] ; Han Brunner [Pays-Bas] ; Michael J. Bamshad [États-Unis] ; Hanns Lochmüller [Royaume-Uni]

Source :

American journal of human genetics [ 1537-6605 ] ; 2017.

RBID : pubmed:28475856

Descripteurs français

KwdFr :
- Bases de données factuelles, Coopération internationale, Exome, Génome humain, Humains, Maladies rares (diagnostic), Maladies rares (génétique).
MESH :
- diagnostic : Maladies rares.
- génétique : Maladies rares.
- Bases de données factuelles, Coopération internationale, Exome, Génome humain, Humains.

English descriptors

KwdEn :
- Databases, Factual, Exome, Genome, Human, Humans, International Cooperation, Rare Diseases (diagnosis), Rare Diseases (genetics).
MESH :
- diagnosis : Rare Diseases.
- genetics : Rare Diseases.
- Databases, Factual, Exome, Genome, Human, Humans, International Cooperation.

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: 10.1016/j.ajhg.2017.04.003
PubMed: 28475856

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<author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name>
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<author><name sortKey="Brudno, Michael" sort="Brudno, Michael" uniqKey="Brudno M" first="Michael" last="Brudno">Michael Brudno</name>
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<author><name sortKey="Carracedo, Angel" sort="Carracedo, Angel" uniqKey="Carracedo A" first="Angel" last="Carracedo">Angel Carracedo</name>
<affiliation wicri:level="1"><nlm:affiliation>Genomic Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
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<author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T" last="Den Dunnen">Johan T. Den Dunnen</name>
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<wicri:regionArea>Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden</wicri:regionArea>
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<author><name sortKey="Dyke, Stephanie O M" sort="Dyke, Stephanie O M" uniqKey="Dyke S" first="Stephanie O M" last="Dyke">Stephanie O M. Dyke</name>
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<author><name sortKey="Estivill, Xavier" sort="Estivill, Xavier" uniqKey="Estivill X" first="Xavier" last="Estivill">Xavier Estivill</name>
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<author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name>
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<author><name sortKey="Gonthier, Catherine" sort="Gonthier, Catherine" uniqKey="Gonthier C" first="Catherine" last="Gonthier">Catherine Gonthier</name>
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<author><name sortKey="Groft, Stephen C" sort="Groft, Stephen C" uniqKey="Groft S" first="Stephen C" last="Groft">Stephen C. Groft</name>
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<author><name sortKey="Gut, Ivo" sort="Gut, Ivo" uniqKey="Gut I" first="Ivo" last="Gut">Ivo Gut</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre Nacional d'Anàlisi Genòmica, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Universitat Pompeu Fabra, 08028 Barcelona, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Centre Nacional d'Anàlisi Genòmica, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Universitat Pompeu Fabra, 08028 Barcelona</wicri:regionArea>
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</author>
<author><name sortKey="Hamosh, Ada" sort="Hamosh, Ada" uniqKey="Hamosh A" first="Ada" last="Hamosh">Ada Hamosh</name>
<affiliation wicri:level="1"><nlm:affiliation>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21286, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21286</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hieter, Philip" sort="Hieter, Philip" uniqKey="Hieter P" first="Philip" last="Hieter">Philip Hieter</name>
<affiliation wicri:level="1"><nlm:affiliation>Michael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Michael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hohn, Sophie" sort="Hohn, Sophie" uniqKey="Hohn S" first="Sophie" last="Höhn">Sophie Höhn</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
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<author><name sortKey="Hurles, Matthew E" sort="Hurles, Matthew E" uniqKey="Hurles M" first="Matthew E" last="Hurles">Matthew E. Hurles</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA</wicri:regionArea>
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<author><name sortKey="Kaufmann, Petra" sort="Kaufmann, Petra" uniqKey="Kaufmann P" first="Petra" last="Kaufmann">Petra Kaufmann</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Knoppers, Bartha M" sort="Knoppers, Bartha M" uniqKey="Knoppers B" first="Bartha M" last="Knoppers">Bartha M. Knoppers</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Krischer, Jeffrey P" sort="Krischer, Jeffrey P" uniqKey="Krischer J" first="Jeffrey P" last="Krischer">Jeffrey P. Krischer</name>
<affiliation wicri:level="1"><nlm:affiliation>University of South Florida Health Informatics Institute, Tampa, FL 33620, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of South Florida Health Informatics Institute, Tampa, FL 33620</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Macek, Milan" sort="Macek, Milan" uniqKey="Macek M" first="Milan" last="Macek">Milan Macek</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5, Czech Republic.</nlm:affiliation>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea>Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University of Leuven, 3000 Leuven</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Olry, Annie" sort="Olry, Annie" uniqKey="Olry A" first="Annie" last="Olry">Annie Olry</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Parker, Samantha" sort="Parker, Samantha" uniqKey="Parker S" first="Samantha" last="Parker">Samantha Parker</name>
<affiliation wicri:level="1"><nlm:affiliation>Lysogene, 92 200 Neuilly-sur-Seine, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Lysogene, 92 200 Neuilly-sur-Seine</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Paschall, Justin" sort="Paschall, Justin" uniqKey="Paschall J" first="Justin" last="Paschall">Justin Paschall</name>
<affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Philippakis, Anthony A" sort="Philippakis, Anthony A" uniqKey="Philippakis A" first="Anthony A" last="Philippakis">Anthony A. Philippakis</name>
<affiliation wicri:level="1"><nlm:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rehm, Heidi L" sort="Rehm, Heidi L" uniqKey="Rehm H" first="Heidi L" last="Rehm">Heidi L. Rehm</name>
<affiliation wicri:level="1"><nlm:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N" last="Robinson">Peter N. Robinson</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany; Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany; Jackson Laboratory for Genomic Medicine, Farmington, CT 06032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sham, Pak Chung" sort="Sham, Pak Chung" uniqKey="Sham P" first="Pak-Chung" last="Sham">Pak-Chung Sham</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre for Genomic Sciences, University of Hong Kong, Hong Kong, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Centre for Genomic Sciences, University of Hong Kong, Hong Kong</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stefanov, Rumen" sort="Stefanov, Rumen" uniqKey="Stefanov R" first="Rumen" last="Stefanov">Rumen Stefanov</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002, Bulgaria.</nlm:affiliation>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Taruscio, Domenica" sort="Taruscio, Domenica" uniqKey="Taruscio D" first="Domenica" last="Taruscio">Domenica Taruscio</name>
<affiliation wicri:level="1"><nlm:affiliation>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Unni, Divya" sort="Unni, Divya" uniqKey="Unni D" first="Divya" last="Unni">Divya Unni</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vanstone, Megan R" sort="Vanstone, Megan R" uniqKey="Vanstone M" first="Megan R" last="Vanstone">Megan R. Vanstone</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zhang, Feng" sort="Zhang, Feng" uniqKey="Zhang F" first="Feng" last="Zhang">Feng Zhang</name>
<affiliation wicri:level="1"><nlm:affiliation>WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China; WuXi NextCODE, Cambridge, MA 02142, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China; WuXi NextCODE, Cambridge, MA 02142</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brunner, Han" sort="Brunner, Han" uniqKey="Brunner H" first="Han" last="Brunner">Han Brunner</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J" last="Bamshad">Michael J. Bamshad</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<affiliation wicri:level="1"><nlm:affiliation>John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2017">2017</date>
<idno type="RBID">pubmed:28475856</idno>
<idno type="pmid">28475856</idno>
<idno type="doi">10.1016/j.ajhg.2017.04.003</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.</title>
<author><name sortKey="Boycott, Kym M" sort="Boycott, Kym M" uniqKey="Boycott K" first="Kym M" last="Boycott">Kym M. Boycott</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rath, Ana" sort="Rath, Ana" uniqKey="Rath A" first="Ana" last="Rath">Ana Rath</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chong, Jessica X" sort="Chong, Jessica X" uniqKey="Chong J" first="Jessica X" last="Chong">Jessica X. Chong</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hartley, Taila" sort="Hartley, Taila" uniqKey="Hartley T" first="Taila" last="Hartley">Taila Hartley</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Alkuraya, Fowzan S" sort="Alkuraya, Fowzan S" uniqKey="Alkuraya F" first="Fowzan S" last="Alkuraya">Fowzan S. Alkuraya</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, King Faisal Research Center, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia.</nlm:affiliation>
<country xml:lang="fr">Arabie saoudite</country>
<wicri:regionArea>Department of Genetics, King Faisal Research Center, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, Perth, WA 6008, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, Perth, WA 6008</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brookes, Anthony J" sort="Brookes, Anthony J" uniqKey="Brookes A" first="Anthony J" last="Brookes">Anthony J. Brookes</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Genetics, University of Leicester, Leicester LE1 7RH</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brudno, Michael" sort="Brudno, Michael" uniqKey="Brudno M" first="Michael" last="Brudno">Michael Brudno</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Computer Science, University of Toronto, Toronto M5S 1A1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Computer Science, University of Toronto, Toronto M5S 1A1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Carracedo, Angel" sort="Carracedo, Angel" uniqKey="Carracedo A" first="Angel" last="Carracedo">Angel Carracedo</name>
<affiliation wicri:level="1"><nlm:affiliation>Genomic Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Genomic Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, 15782 Santiago de Compostela</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T" last="Den Dunnen">Johan T. Den Dunnen</name>
<affiliation wicri:level="1"><nlm:affiliation>Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dyke, Stephanie O M" sort="Dyke, Stephanie O M" uniqKey="Dyke S" first="Stephanie O M" last="Dyke">Stephanie O M. Dyke</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Estivill, Xavier" sort="Estivill, Xavier" uniqKey="Estivill X" first="Xavier" last="Estivill">Xavier Estivill</name>
<affiliation wicri:level="1"><nlm:affiliation>Experimental Division, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar; Genetics Unit, Dexeus Woman's Health, 08028 Barcelona, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Experimental Division, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar; Genetics Unit, Dexeus Woman's Health, 08028 Barcelona</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, Perth, WA 6008, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, Perth, WA 6008</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gonthier, Catherine" sort="Gonthier, Catherine" uniqKey="Gonthier C" first="Catherine" last="Gonthier">Catherine Gonthier</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Groft, Stephen C" sort="Groft, Stephen C" uniqKey="Groft S" first="Stephen C" last="Groft">Stephen C. Groft</name>
<affiliation wicri:level="1"><nlm:affiliation>National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gut, Ivo" sort="Gut, Ivo" uniqKey="Gut I" first="Ivo" last="Gut">Ivo Gut</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre Nacional d'Anàlisi Genòmica, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Universitat Pompeu Fabra, 08028 Barcelona, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Centre Nacional d'Anàlisi Genòmica, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Universitat Pompeu Fabra, 08028 Barcelona</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hamosh, Ada" sort="Hamosh, Ada" uniqKey="Hamosh A" first="Ada" last="Hamosh">Ada Hamosh</name>
<affiliation wicri:level="1"><nlm:affiliation>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21286, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21286</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hieter, Philip" sort="Hieter, Philip" uniqKey="Hieter P" first="Philip" last="Hieter">Philip Hieter</name>
<affiliation wicri:level="1"><nlm:affiliation>Michael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Michael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hohn, Sophie" sort="Hohn, Sophie" uniqKey="Hohn S" first="Sophie" last="Höhn">Sophie Höhn</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hurles, Matthew E" sort="Hurles, Matthew E" uniqKey="Hurles M" first="Matthew E" last="Hurles">Matthew E. Hurles</name>
<affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kaufmann, Petra" sort="Kaufmann, Petra" uniqKey="Kaufmann P" first="Petra" last="Kaufmann">Petra Kaufmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Knoppers, Bartha M" sort="Knoppers, Bartha M" uniqKey="Knoppers B" first="Bartha M" last="Knoppers">Bartha M. Knoppers</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Krischer, Jeffrey P" sort="Krischer, Jeffrey P" uniqKey="Krischer J" first="Jeffrey P" last="Krischer">Jeffrey P. Krischer</name>
<affiliation wicri:level="1"><nlm:affiliation>University of South Florida Health Informatics Institute, Tampa, FL 33620, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of South Florida Health Informatics Institute, Tampa, FL 33620</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Macek, Milan" sort="Macek, Milan" uniqKey="Macek M" first="Milan" last="Macek">Milan Macek</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5, Czech Republic.</nlm:affiliation>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea>Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University of Leuven, 3000 Leuven</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Olry, Annie" sort="Olry, Annie" uniqKey="Olry A" first="Annie" last="Olry">Annie Olry</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Parker, Samantha" sort="Parker, Samantha" uniqKey="Parker S" first="Samantha" last="Parker">Samantha Parker</name>
<affiliation wicri:level="1"><nlm:affiliation>Lysogene, 92 200 Neuilly-sur-Seine, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Lysogene, 92 200 Neuilly-sur-Seine</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Paschall, Justin" sort="Paschall, Justin" uniqKey="Paschall J" first="Justin" last="Paschall">Justin Paschall</name>
<affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Philippakis, Anthony A" sort="Philippakis, Anthony A" uniqKey="Philippakis A" first="Anthony A" last="Philippakis">Anthony A. Philippakis</name>
<affiliation wicri:level="1"><nlm:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rehm, Heidi L" sort="Rehm, Heidi L" uniqKey="Rehm H" first="Heidi L" last="Rehm">Heidi L. Rehm</name>
<affiliation wicri:level="1"><nlm:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N" last="Robinson">Peter N. Robinson</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany; Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany; Jackson Laboratory for Genomic Medicine, Farmington, CT 06032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sham, Pak Chung" sort="Sham, Pak Chung" uniqKey="Sham P" first="Pak-Chung" last="Sham">Pak-Chung Sham</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre for Genomic Sciences, University of Hong Kong, Hong Kong, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Centre for Genomic Sciences, University of Hong Kong, Hong Kong</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stefanov, Rumen" sort="Stefanov, Rumen" uniqKey="Stefanov R" first="Rumen" last="Stefanov">Rumen Stefanov</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002, Bulgaria.</nlm:affiliation>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Taruscio, Domenica" sort="Taruscio, Domenica" uniqKey="Taruscio D" first="Domenica" last="Taruscio">Domenica Taruscio</name>
<affiliation wicri:level="1"><nlm:affiliation>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Unni, Divya" sort="Unni, Divya" uniqKey="Unni D" first="Divya" last="Unni">Divya Unni</name>
<affiliation wicri:level="1"><nlm:affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vanstone, Megan R" sort="Vanstone, Megan R" uniqKey="Vanstone M" first="Megan R" last="Vanstone">Megan R. Vanstone</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zhang, Feng" sort="Zhang, Feng" uniqKey="Zhang F" first="Feng" last="Zhang">Feng Zhang</name>
<affiliation wicri:level="1"><nlm:affiliation>WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China; WuXi NextCODE, Cambridge, MA 02142, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China; WuXi NextCODE, Cambridge, MA 02142</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brunner, Han" sort="Brunner, Han" uniqKey="Brunner H" first="Han" last="Brunner">Han Brunner</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J" last="Bamshad">Michael J. Bamshad</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<affiliation wicri:level="1"><nlm:affiliation>John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">American journal of human genetics</title>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
</series>
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<term>Exome</term>
<term>Genome, Human</term>
<term>Humans</term>
<term>International Cooperation</term>
<term>Rare Diseases (diagnosis)</term>
<term>Rare Diseases (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Bases de données factuelles</term>
<term>Coopération internationale</term>
<term>Exome</term>
<term>Génome humain</term>
<term>Humains</term>
<term>Maladies rares (diagnostic)</term>
<term>Maladies rares (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Rare Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Maladies rares</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Rare Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Maladies rares</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Databases, Factual</term>
<term>Exome</term>
<term>Genome, Human</term>
<term>Humans</term>
<term>International Cooperation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Bases de données factuelles</term>
<term>Coopération internationale</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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<DateCreated><Year>2017</Year>
<Month>05</Month>
<Day>05</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>07</Month>
<Day>27</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>11</Month>
<Day>04</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>100</Volume>
<Issue>5</Issue>
<PubDate><Year>2017</Year>
<Month>May</Month>
<Day>04</Day>
</PubDate>
</JournalIssue>
<Title>American journal of human genetics</Title>
<ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.</ArticleTitle>
<Pagination><MedlinePgn>695-705</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0002-9297(17)30147-7</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2017.04.003</ELocationID>
<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
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<ForeName>Kym M</ForeName>
<Initials>KM</Initials>
<AffiliationInfo><Affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.</Affiliation>
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<AffiliationInfo><Affiliation>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.</Affiliation>
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<AffiliationInfo><Affiliation>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.</Affiliation>
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<Initials>FS</Initials>
<AffiliationInfo><Affiliation>Department of Genetics, King Faisal Research Center, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia.</Affiliation>
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<Initials>AJ</Initials>
<AffiliationInfo><Affiliation>Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.</Affiliation>
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<AffiliationInfo><Affiliation>Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands.</Affiliation>
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<AffiliationInfo><Affiliation>Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada.</Affiliation>
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<Initials>SC</Initials>
<AffiliationInfo><Affiliation>National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA.</Affiliation>
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<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht, the Netherlands.</Affiliation>
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<Initials>MJ</Initials>
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<Initials>H</Initials>
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</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>UM1 HG008900</GrantID>
<Acronym>HG</Acronym>
<Agency>NHGRI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U54 HG006493</GrantID>
<Acronym>HG</Acronym>
<Agency>NHGRI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U54 HG006542</GrantID>
<Acronym>HG</Acronym>
<Agency>NHGRI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>UM1 HG006493</GrantID>
<Acronym>HG</Acronym>
<Agency>NHGRI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><Agency>Wellcome Trust</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant><GrantID>U41 HG006627</GrantID>
<Acronym>HG</Acronym>
<Agency>NHGRI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Am J Hum Genet</MedlineTA>
<NlmUniqueID>0370475</NlmUniqueID>
<ISSNLinking>0002-9297</ISSNLinking>
</MedlineJournalInfo>
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<MeshHeadingList><MeshHeading><DescriptorName UI="D016208" MajorTopicYN="N">Databases, Factual</DescriptorName>
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   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
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   |type=    RBID
   |clé=     pubmed:28475856
   |texte=   International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Serveur d'exploration sur les relations entre la France et l'Australie

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

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