AustralieFrV1, Main, Exploration, bibRecord, 000954

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Identifieur interne : 000954 ( Main/Exploration ); précédent : 000953; suivant : 000955

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 [Qatar, 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 [Allemagne, États-Unis] ; Pak-Chung Sham [République populaire de Chine] ; Rumen Stefanov [Bulgarie] ; Domenica Taruscio [Italie] ; Divya Unni [France] ; Megan R. Vanstone [Canada] ; Feng Zhang [République populaire de Chine, États-Unis] ; Han Brunner [Pays-Bas] ; Michael J. Bamshad [États-Unis] ; Hanns Lochmüller [Royaume-Uni]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2017.

RBID : PMC:5420351

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420351

DOI: 10.1016/j.ajhg.2017.04.003
PubMed: 28475856
PubMed Central: 5420351

Affiliations:

Le document en format XML

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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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<author><name sortKey="Macek, Milan" sort="Macek, Milan" uniqKey="Macek M" first="Milan" last="Macek">Milan Macek</name>
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<author><name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name>
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<author><name sortKey="Philippakis, Anthony A" sort="Philippakis, Anthony A" uniqKey="Philippakis A" first="Anthony A." last="Philippakis">Anthony A. Philippakis</name>
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<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="2"><nlm:aff id="aff24">Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA</nlm:aff>
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<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="3"><nlm:aff id="aff25">Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin</wicri:regionArea>
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<settlement type="city">Berlin</settlement>
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<affiliation wicri:level="2"><nlm:aff id="aff26">Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Jackson Laboratory for Genomic Medicine, Farmington, CT 06032</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
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<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:aff id="aff27">Centre for Genomic Sciences, University of Hong Kong, Hong Kong, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Centre for Genomic Sciences, University of Hong Kong, Hong Kong</wicri:regionArea>
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<author><name sortKey="Stefanov, Rumen" sort="Stefanov, Rumen" uniqKey="Stefanov R" first="Rumen" last="Stefanov">Rumen Stefanov</name>
<affiliation wicri:level="1"><nlm:aff id="aff28">Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002, Bulgaria</nlm:aff>
<country xml:lang="fr">Bulgarie</country>
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</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:aff id="aff29">National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161, Italy</nlm:aff>
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<wicri:regionArea>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161</wicri:regionArea>
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</placeName>
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<author><name sortKey="Unni, Divya" sort="Unni, Divya" uniqKey="Unni D" first="Divya" last="Unni">Divya Unni</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France</nlm:aff>
<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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<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
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<author><name sortKey="Vanstone, Megan R" sort="Vanstone, Megan R" uniqKey="Vanstone M" first="Megan R." last="Vanstone">Megan R. Vanstone</name>
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<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>
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</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:aff id="aff30">WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
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<wicri:noRegion>Shanghai 200131</wicri:noRegion>
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<affiliation wicri:level="2"><nlm:aff id="aff31">WuXi NextCODE, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>WuXi NextCODE, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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:aff id="aff32">Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea>
<wicri:noRegion>6525 GA Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff33">Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht</wicri:regionArea>
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<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="4"><nlm:aff id="aff3">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
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<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
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<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff34">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<affiliation wicri:level="1"><nlm:aff id="aff35">John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<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>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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:aff id="aff1">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada</nlm:aff>
<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>
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</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:aff id="aff2">Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France</nlm:aff>
<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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<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
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<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="4"><nlm:aff id="aff3">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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:aff id="aff1">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada</nlm:aff>
<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>
<wicri:noRegion>ON K1H 8L1</wicri:noRegion>
</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:aff id="aff4">Department of Genetics, King Faisal Research Center, Riyadh 11211, Saudi Arabia</nlm:aff>
<country xml:lang="fr">Arabie saoudite</country>
<wicri:regionArea>Department of Genetics, King Faisal Research Center, Riyadh 11211</wicri:regionArea>
<wicri:noRegion>Riyadh 11211</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia</nlm:aff>
<country xml:lang="fr">Arabie saoudite</country>
<wicri:regionArea>Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442</wicri:regionArea>
<wicri:noRegion>Riyadh 11442</wicri:noRegion>
</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:aff id="aff6">Genetic Services of Western Australia, Perth, WA 6008, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, Perth, WA 6008</wicri:regionArea>
<wicri:noRegion>WA 6008</wicri:noRegion>
</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:aff id="aff7">Department of Genetics, University of Leicester, Leicester LE1 7RH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Genetics, University of Leicester, Leicester LE1 7RH</wicri:regionArea>
<wicri:noRegion>Leicester LE1 7RH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brudno, Michael" sort="Brudno, Michael" uniqKey="Brudno M" first="Michael" last="Brudno">Michael Brudno</name>
<affiliation wicri:level="4"><nlm:aff id="aff8">Department of Computer Science, University of Toronto, Toronto M5S 1A1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Computer Science, University of Toronto, Toronto M5S 1A1</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Carracedo, Angel" sort="Carracedo, Angel" uniqKey="Carracedo A" first="Angel" last="Carracedo">Angel Carracedo</name>
<affiliation wicri:level="4"><nlm:aff id="aff9">Genomic Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, 15782 Santiago de Compostela, Spain</nlm:aff>
<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>
<orgName type="university">Université de Saint-Jacques-de-Compostelle</orgName>
<placeName><settlement type="city">Santiago de Compostela</settlement>
<region nuts="2" type="region">Galice</region>
</placeName>
</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:aff id="aff10">Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands</nlm:aff>
<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>
<wicri:noRegion>2333 ZA Leiden</wicri:noRegion>
</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="4"><nlm:aff id="aff11">Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada</nlm:aff>
<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>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</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:aff id="aff12">Experimental Division, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Experimental Division, Sidra Medical and Research Center, PO Box 26999, Doha</wicri:regionArea>
<wicri:noRegion>Doha</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff13">Genetics Unit, Dexeus Woman’s Health, 08028 Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Genetics Unit, Dexeus Woman’s Health, 08028 Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</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:aff id="aff6">Genetic Services of Western Australia, Perth, WA 6008, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, Perth, WA 6008</wicri:regionArea>
<wicri:noRegion>WA 6008</wicri:noRegion>
</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:aff id="aff2">Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</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="2"><nlm:aff id="aff14">National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA</nlm:aff>
<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>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gut, Ivo" sort="Gut, Ivo" uniqKey="Gut I" first="Ivo" last="Gut">Ivo Gut</name>
<affiliation wicri:level="4"><nlm:aff id="aff15">Centre Nacional d’Anàlisi Genòmica, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Universitat Pompeu Fabra, 08028 Barcelona, Spain</nlm:aff>
<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>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
<settlement type="city">Barcelone</settlement>
</placeName>
<orgName type="university">Université Pompeu Fabra</orgName>
</affiliation>
</author>
<author><name sortKey="Hamosh, Ada" sort="Hamosh, Ada" uniqKey="Hamosh A" first="Ada" last="Hamosh">Ada Hamosh</name>
<affiliation wicri:level="2"><nlm:aff id="aff16">McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21286, USA</nlm:aff>
<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>
<placeName><region type="state">Maryland</region>
</placeName>
</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:aff id="aff17">Michael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada</nlm:aff>
<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>
<wicri:noRegion>BC V6T 1Z4</wicri:noRegion>
</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:aff id="aff2">Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</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:aff id="aff18">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA</wicri:regionArea>
<wicri:noRegion>Hinxton CB10 1SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kaufmann, Petra" sort="Kaufmann, Petra" uniqKey="Kaufmann P" first="Petra" last="Kaufmann">Petra Kaufmann</name>
<affiliation wicri:level="2"><nlm:aff id="aff19">Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA</nlm:aff>
<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>
<placeName><region type="state">Maryland</region>
</placeName>
</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="4"><nlm:aff id="aff11">Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada</nlm:aff>
<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>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</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="2"><nlm:aff id="aff20">University of South Florida Health Informatics Institute, Tampa, FL 33620, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of South Florida Health Informatics Institute, Tampa, FL 33620</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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:aff id="aff21">Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5, Czech Republic</nlm:aff>
<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>
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</affiliation>
</author>
<author><name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name>
<affiliation wicri:level="3"><nlm:aff id="aff22">Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University of Leuven, 3000 Leuven</wicri:regionArea>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</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:aff id="aff2">Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France</nlm:aff>
<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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<region type="région" nuts="2">Île-de-France</region>
</placeName>
</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:aff id="aff23">Lysogene, 92 200 Neuilly-sur-Seine, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Lysogene, 92 200 Neuilly-sur-Seine</wicri:regionArea>
<wicri:noRegion>92 200 Neuilly-sur-Seine</wicri:noRegion>
<wicri:noRegion>92 200 Neuilly-sur-Seine</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Paschall, Justin" sort="Paschall, Justin" uniqKey="Paschall J" first="Justin" last="Paschall">Justin Paschall</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>
<wicri:noRegion>Hinxton CB10 1SA</wicri:noRegion>
</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="2"><nlm:aff id="aff24">Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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="2"><nlm:aff id="aff24">Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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="3"><nlm:aff id="aff25">Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin</wicri:regionArea>
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<settlement type="city">Berlin</settlement>
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<affiliation wicri:level="2"><nlm:aff id="aff26">Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Jackson Laboratory for Genomic Medicine, Farmington, CT 06032</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</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:aff id="aff27">Centre for Genomic Sciences, University of Hong Kong, Hong Kong, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Centre for Genomic Sciences, University of Hong Kong, Hong Kong</wicri:regionArea>
<wicri:noRegion>Hong Kong</wicri:noRegion>
</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:aff id="aff28">Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002, Bulgaria</nlm:aff>
<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>
<wicri:noRegion>Plovdiv 4002</wicri:noRegion>
</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:aff id="aff29">National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
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<author><name sortKey="Unni, Divya" sort="Unni, Divya" uniqKey="Unni D" first="Divya" last="Unni">Divya Unni</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris</wicri:regionArea>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</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:aff id="aff1">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada</nlm:aff>
<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>
<wicri:noRegion>ON K1H 8L1</wicri:noRegion>
</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:aff id="aff30">WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131</wicri:regionArea>
<wicri:noRegion>Shanghai 200131</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff31">WuXi NextCODE, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>WuXi NextCODE, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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:aff id="aff32">Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea>
<wicri:noRegion>6525 GA Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff33">Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht</wicri:regionArea>
<wicri:noRegion>6229 GT Maastricht</wicri:noRegion>
</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="4"><nlm:aff id="aff3">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff34">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</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:aff id="aff35">John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<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>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2017">2017</date>
</imprint>
</series>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Databases, Factual</term>
<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>
<term>Exome</term>
<term>Génome humain</term>
<term>Humains</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en"><p>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.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Arabie saoudite</li>
<li>Australie</li>
<li>Belgique</li>
<li>Bulgarie</li>
<li>Canada</li>
<li>Espagne</li>
<li>France</li>
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<li>Qatar</li>
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<region><li>Berlin</li>
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<li>Connecticut</li>
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<li>Maryland</li>
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<li>Santiago de Compostela</li>
<li>Seattle</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université McGill</li>
<li>Université Pompeu Fabra</li>
<li>Université de Saint-Jacques-de-Compostelle</li>
<li>Université de Toronto</li>
<li>Université de Washington</li>
</orgName>
</list>
<tree><country name="Canada"><noRegion><name sortKey="Boycott, Kym M" sort="Boycott, Kym M" uniqKey="Boycott K" first="Kym M." last="Boycott">Kym M. Boycott</name>
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<country name="France"><region name="Île-de-France"><name sortKey="Rath, Ana" sort="Rath, Ana" uniqKey="Rath A" first="Ana" last="Rath">Ana Rath</name>
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<name sortKey="Gut, Ivo" sort="Gut, Ivo" uniqKey="Gut I" first="Ivo" last="Gut">Ivo Gut</name>
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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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	Serveur d'exploration sur les relations entre la France et l'Australie
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