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

Author:

Austin Christopher P.1,Cutillo Christine M.1,Lau Lilian P.L.2,Jonker Anneliene H.2,Rath Ana23,Julkowska Daria4,Thomson David5,Terry Sharon F.6,de Montleau Béatrice7,Ardigò Diego8,Hivert Virginie7,Boycott Kym M.9,Baynam Gareth1011,Kaufmann Petra1,Taruscio Domenica12,Lochmüller Hanns13,Suematsu Makoto14,Incerti Carlo15,Draghia-Akli Ruxandra1617,Norstedt Irene16,Wang Lu18,Dawkins Hugh J.S.19,

Affiliation:

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

Funder

European Commission FP7 contract, “SUPPORT-IRDiRC”

European Commission FP7 contract, “RD-Connect”

Publisher

Wiley

Subject

General Pharmacology, Toxicology and Pharmaceutics,General Biochemistry, Genetics and Molecular Biology,General Medicine,General Neuroscience

Reference30 articles.

1. Rare-disease project has global ambitions;Abbott;Nature,2011

2. Progress in rare diseases research 2010-2016: an IRDiRC perspective;Dawkins;Clin. Trans. Sci.,2018

3. 3rd IRDiRC Conference 2017 http://www.irdirc-conference.org

4. The importance of international collaboration for rare diseases research-a European perspective;Julkowska;Gene Ther.,2017

5. International cooperation to enable the diagnosis of all rare genetic diseases;Boycott;Am. J. Hum. Genet,2017

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