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

Paradigms and Technologies


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 programme, 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. Coordination of the activities of funding agencies, academic researchers, companies, regulatory bodies, and patient advocacy organizations and partnerships with e.g. the European Research Infrastructures maximizes the collective impact of global investments in rare diseases research. This contributes to accelerating progress e.g. 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 preclinical and clinical gene therapy projects show that integration of multinational and multidisciplinary expertise 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.Gene Therapy accepted article preview online, 25 April 2017. doi:10.1038/gt.2017.29.


Julkowska, D; Austin, Christopher; Cutillo, Christine; Gancberg, D; Hager, C; Halftermeyer, J; Jonker, A H; Lau, L P L; Norstedt, I; Rath, A; Schuster, R; Simelyte, E; van Weely, S;

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