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

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.

PMID: 28796445
PMCID: PMC5759721
DOI: 10.1111/cts.12500

Review

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

Christopher P Austin et al. Clin Transl Sci. 2018 Jan.

. 2018 Jan;11(1):21-27.

doi: 10.1111/cts.12500. Epub 2017 Oct 23.

Authors

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.

PMID: 28796445
PMCID: PMC5759721
DOI: 10.1111/cts.12500

No abstract available

PubMed Disclaimer

References

1. Abbott, A. Rare‐disease project has global ambitions. Nature 472(7341), 17 (2011). - PubMed
1. Dawkins, H.J.S. et al Progress in rare diseases research 2010–2016: an IRDiRC perspective. Clin. Trans. Sci. 11(11), 20 (2018). - PMC - PubMed
1. 3rd IRDiRC Conference 2017 . Available from: http://www.irdirc-conference.org [Accessed 30 June 2017].
1. Julkowska, D. et al The importance of international collaboration for rare diseases research—a European perspective. Gene Ther. (2017) [epub ahead of print]. - PMC - PubMed
1. Boycott, K.M. et al International cooperation to enable the diagnosis of all rare genetic diseases. Am. J. Hum. Genet. 100(5), 695–705 (2017). - PMC - PubMed

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

Affiliations

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

Authors

Affiliations

References

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LinkOut - more resources

Full Text Sources

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Medical