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Gene Ther. 2017 Sep;24(9):562-571. doi: 10.1038/gt.2017.29. Epub 2017 Jul 27.

The importance of international collaboration for rare diseases research: a European perspective.

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Department of Health &Biology, Agence Nationale de la Recherche, Paris, France.
National Center for Advancing Translational Sciences (NCATS), US National Institutes of Health (NIH), Bethesda, MD, USA.
Directorate Health, Directorate-General for Research and Innovation, European Commission, Brussels, Belgium.
Directorate Health Systems, Medical products and innovation, Directorate-General for Health and Food Safety, European Commission, Brussels, Belgium.
IRDiRC Scientific Secretariat, Inserm US14, Paris, France.
Inserm US14-Orphanet, Paris, France.
DLR Project Management Agency, Health, Bonn, Germany.
The Netherlands Organisation for Health Research and Development (ZonMw), The Hague, The Netherlands.


Over the last two decades, important contributions were made at national, European and international levels to foster collaboration into rare diseases research. The European Union (EU) has put much effort into funding rare diseases research, encouraging national funding organizations to collaborate together in the E-Rare program, setting up European Reference Networks for rare diseases and complex conditions, and initiating the International Rare Diseases Research Consortium (IRDiRC) together with the National Institutes of Health in the USA. Co-ordination of the activities of funding agencies, academic researchers, companies, regulatory bodies, and patient advocacy organizations and partnerships with, for example, the European Research Infrastructures maximizes the collective impact of global investments in rare diseases research. This contributes to accelerating progress, for example, in faster diagnosis through enhanced discovery of causative genes, better understanding of natural history of rare diseases through creation of common registries and databases and boosting of innovative therapeutic approaches. Several examples of funded pre-clinical and clinical gene therapy projects show that integration of multinational and multidisciplinary expertize generates new knowledge and can result in multicentre gene therapy trials. International collaboration in rare diseases research is key to improve the life of people living with a rare disease.

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