Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective

Christopher P Austin; Christine M Cutillo; Lilian P L Lau; Anneliene H Jonker; Ana Rath; Daria Julkowska; David Thomson; Sharon F Terry; Béatrice de Montleau; Diego Ardigò; Virginie Hivert; Kym M Boycott; Gareth Baynam; Petra Kaufmann; Domenica Taruscio; Hanns Lochmüller; Makoto Suematsu; Carlo Incerti; Ruxandra Draghia-Akli; Irene Norstedt; Lu Wang; Hugh J S Dawkins; International Rare Diseases Research Consortium (IRDiRC)

doi:10.1111/cts.12500

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective

Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23.

Authors

Christopher P Austin¹, Christine M Cutillo¹, Lilian P L Lau², Anneliene H Jonker², Ana Rath^{2

3}, Daria Julkowska⁴, David Thomson⁵, Sharon F Terry⁶, Béatrice de Montleau⁷, Diego Ardigò⁸, Virginie Hivert⁷, Kym M Boycott⁹, Gareth Baynam^{10

11}, Petra Kaufmann¹, Domenica Taruscio¹², Hanns Lochmüller¹³, Makoto Suematsu¹⁴, Carlo Incerti¹⁵, Ruxandra Draghia-Akli^{16

17}, Irene Norstedt¹⁶, Lu Wang¹⁸, Hugh J S Dawkins¹⁹; International Rare Diseases Research Consortium (IRDiRC)

Affiliations

¹ National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
² IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.
³ Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France.
⁴ Agence Nationale de la Recherche (ANR), Paris, France.
⁵ Shire, Lexington, Massachusetts, USA, (until April 2017).
⁶ Genetic Alliance, Washington DC, USA.
⁷ EURORDIS-Rare Diseases Europe, Paris, France.
⁸ Corporate Drug Development, Chiesi Farmaceutici S.p.A., Italy.
⁹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
¹⁰ Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
¹¹ Western Australian Register of Developmental Anomalies, Perth, Australia.
¹² National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
¹³ Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
¹⁴ Japan Agency for Medical Research and Development (AMED), Tokyo, Japan.
¹⁵ Sanofi Genzyme, Cambridge, Massachusetts, USA.
¹⁶ Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).
¹⁷ Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017).
¹⁸ National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.
¹⁹ Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

No abstract available

Publication types

Historical Article
Research Support, Non-U.S. Gov't
Review

MeSH terms

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