المؤلفون: Southall NT; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. southalln@mail.nih.gov., Natarajan M; Rare Diseases Drug Discovery Unit, Takeda, Cambridge, MA, USA., Lau LPL; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.; IRDiRC Scientific Secretariat, Inserm-US14, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Paris, France., Deprez B; Université de Lille, Inserm, Institut Pasteur de Lille, U1177 - Drugs and Molecules for Living Systems, Lille, France.; Apteeus, Campus Institut Pasteur de Lille, Lille, France., Guilliams T; HealX, Cambridge, UK., Hunter L; University of Colorado, Denver School of Medicine, Denver, USA., Rademaker CM; University Medical Center Utrecht, Utrecht, the Netherlands., Hivert V; EURORDIS-Rare Diseases Europe, Paris, France., Ardigò D; Chiesi Farmaceutici SpA, Parma, Italy.

مؤلفون مشاركون: IRDiRC Data Mining and Repurposing Task Force

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Oct 15; Vol. 14 (1), pp. 225. Date of Electronic Publication: 2019 Oct 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Biomedical Research* , Data Mining* , Drug Repositioning*, Rare Diseases/*drug therapy, Big Data ; Databases, Factual ; Humans

المؤلفون: Day S; Clinical Trials Consulting & Training Limited, 53 Portway, North Marston, Buckingham, Buckinghamshire, MK18 3PL, UK. simon.day@CTCT-Ltd.co.uk., Jonker AH; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Lau LPL; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Hilgers RD; Department of Medical Statistics, RWTH Aachen University, Aachen, Germany., Irony I; Center for Biologics Evaluation and Research/ Office of Tissues and Advanced Therapies, US Food and Drug Administration, Silver Spring, USA., Larsson K; Orphan Medicines, European Medicines Agency, London, UK., Roes KC; Julius Center for Health Sciences and Primary Care, UMC Utrecht, Utrecht, The Netherlands., Stallard N; Statistics and Epidemiology, Warwick Medical School, University of Warwick, Coventry, UK.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Nov 06; Vol. 13 (1), pp. 195. Date of Electronic Publication: 2018 Nov 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Rare Diseases*, Biomedical Research/*methods, Clinical Trials as Topic ; Humans ; Research Design

المؤلفون: Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Cutillo CM; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Lau LPL; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Rath A; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France., Julkowska D; Agence Nationale de la Recherche (ANR), Paris, France., Thomson D; Shire, Lexington, Massachusetts, USA, (until April 2017)., Terry SF; Genetic Alliance, Washington DC, USA., de Montleau B; EURORDIS-Rare Diseases Europe, Paris, France., Ardigò D; Corporate Drug Development, Chiesi Farmaceutici S.p.A., Italy., Hivert V; EURORDIS-Rare Diseases Europe, Paris, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia., Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Suematsu M; Japan Agency for Medical Research and Development (AMED), Tokyo, Japan., Incerti C; Sanofi Genzyme, Cambridge, Massachusetts, USA., Draghia-Akli R; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017)., Norstedt I; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017)., Wang L; National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA., Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

مؤلفون مشاركون: International Rare Diseases Research Consortium (IRDiRC)

المصدر: Clinical and translational science [Clin Transl Sci] 2018 Jan; Vol. 11 (1), pp. 21-27. Date of Electronic Publication: 2017 Oct 23.

نوع المنشور: Historical Article; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

مواضيع طبية MeSH: International Cooperation* , Intersectoral Collaboration*, Patient Participation/*trends , Rare Diseases/*diagnosis , Translational Research, Biomedical/*trends, Access to Information ; Goals ; Health Services Accessibility/organization & administration ; Health Services Accessibility/trends ; History, 21st Century ; Humans ; Information Dissemination ; Prevalence ; Rare Diseases/epidemiology ; Rare Diseases/etiology ; Rare Diseases/therapy ; Registries ; Translational Research, Biomedical/economics ; Translational Research, Biomedical/history ; Translational Research, Biomedical/organization & administration

المؤلفون: Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia., Draghia-Akli R; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017)., Lasko P; Department of Biology, McGill University, Montréal, Canada., Lau LPL; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Cutillo CM; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Rath A; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia., Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Le Cam Y; EURORDIS-Rare Diseases Europe, Paris, France., Hivert V; EURORDIS-Rare Diseases Europe, Paris, France., Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

مؤلفون مشاركون: International Rare Diseases Research Consortium (IRDiRC)

المصدر: Clinical and translational science [Clin Transl Sci] 2018 Jan; Vol. 11 (1), pp. 11-20. Date of Electronic Publication: 2017 Oct 23.

نوع المنشور: Historical Article; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

مواضيع طبية MeSH: Intersectoral Collaboration*, Advisory Committees/*organization & administration , International Cooperation/*history , Rare Diseases/*therapy , Translational Research, Biomedical/*organization & administration, Advisory Committees/history ; Advisory Committees/standards ; Clinical Trials as Topic ; Guidelines as Topic ; History, 21st Century ; Humans ; Prevalence ; Rare Diseases/diagnosis ; Rare Diseases/epidemiology ; Rare Diseases/etiology ; Translational Research, Biomedical/economics ; Translational Research, Biomedical/history ; Translational Research, Biomedical/standards

المؤلفون: Julkowska D; Department of Health &Biology, Agence Nationale de la Recherche, Paris, France., Austin CP; National Center for Advancing Translational Sciences (NCATS), US National Institutes of Health (NIH), Bethesda, MD, USA., Cutillo CM; National Center for Advancing Translational Sciences (NCATS), US National Institutes of Health (NIH), Bethesda, MD, USA., Gancberg D; Directorate Health, Directorate-General for Research and Innovation, European Commission, Brussels, Belgium., Hager C; Directorate Health Systems, Medical products and innovation, Directorate-General for Health and Food Safety, European Commission, Brussels, Belgium., Halftermeyer J; Department of Health &Biology, Agence Nationale de la Recherche, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm US14, Paris, France., Lau LPL; IRDiRC Scientific Secretariat, Inserm US14, Paris, France., Norstedt I; Directorate Health, Directorate-General for Research and Innovation, European Commission, Brussels, Belgium., Rath A; Inserm US14-Orphanet, Paris, France., Schuster R; DLR Project Management Agency, Health, Bonn, Germany., Simelyte E; Directorate Health, Directorate-General for Research and Innovation, European Commission, Brussels, Belgium., van Weely S; The Netherlands Organisation for Health Research and Development (ZonMw), The Hague, The Netherlands.

المصدر: Gene therapy [Gene Ther] 2017 Sep; Vol. 24 (9), pp. 562-571. Date of Electronic Publication: 2017 Jul 27.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE

مواضيع طبية MeSH: International Cooperation*, Biomedical Research/*organization & administration , Rare Diseases/*therapy, Biomedical Research/economics ; European Union ; Humans ; Rare Diseases/diagnosis