Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective-Reference-Cited by-同舟云学术

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

Published:2017-10-23 Issue:1 Volume:11 Page:11-20
ISSN:1752-8054
Container-title:Clinical and Translational Science
language:en
Short-container-title:Clinical And Translational Science

Author:

Dawkins Hugh J.S.¹,Draghia-Akli Ruxandra²³,Lasko Paul⁴,Lau Lilian P.L.⁵,Jonker Anneliene H.⁵,Cutillo Christine M.⁶,Rath Ana⁵⁷,Boycott Kym M.⁸,Baynam Gareth⁹¹⁰,Lochmüller Hanns¹¹,Kaufmann Petra⁶,Le Cam Yann¹²,Hivert Virginie¹²,Austin Christopher P.⁶,

Affiliation:

1. Office of Population Health Genomics; Public Health Division; Department of Health; Government of Western Australia; Perth Australia

2. Directorate General for Research and Innovation (DG RTD); European Commission; Brussels Belgium (until April 2017)

3. Merck & Co. Inc.; Upper Gwynedd Pennsylvania USA (from June 2017)

4. Department of Biology; McGill University; Montréal Canada

5. IRDiRC Scientific Secretariat; Inserm-US14, Rare Diseases Platform Paris France

6. National Center for Advancing Translational Sciences (NCATS); National Institutes of Health (NIH); Bethesda Maryland USA

7. Orphanet; Inserm-US14, Rare Diseases Platform Paris France

8. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Canada

9. Genetic Services of Western Australia; King Edward Memorial Hospital; Perth Australia

10. Western Australian Register of Developmental Anomalies; Perth Australia

11. Institute of Genetic Medicine; Newcastle University; Newcastle upon Tyne UK

12. EURORDIS-Rare Diseases Europe; Paris France

Funder

SUPPORT-IRDiRC

RD-Connect

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cts.12501/fullpdf

Reference60 articles.

1. Rare essentials: drugs for rare diseases as essential medicines;Stolk;Bull. World Health Organ.,2006

2. Prevalence and Incidence of Rare Diseases: Bibliographic Data , in Orphanet Report Series, Rare Diseases Collection (eds. Rath, A. & Nguengang-Wakap, S.) http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 2016

3. Rare diseases, orphan drugs and their regulation: questions and misconceptions;Tambuyzer;Nat. Rev. Drug Discov.,2010

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

5. Rare diseases and orphan drugs;Melnikova;Nat. Rev. Drug Discov.,2012

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