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

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.

An opportunity for exploitation of research in biomedical engineering: the EC Life Sciences Demonstration Projects.

To validate clinically a new stereotactic device for real-time monitored minimally-invasive brain surgery; to perform the first European phase I clinical trials of Boron Neutron Capture Therapy (BNCT) for treatment of glioblastoma, using the facility of the Community Joint Research Centre (JRC) in Petten, on forty patients from six different European centres. These are typical objectives of the current EC BIOMED 2 demonstration projects. The number of supported projects under BIOMED is now 16 in 1998, and will be in total around 80 for the three Life Sciences and Technologies Programmes. Demonstration is expected to play a major role in the Fifth Framework Programme, particularly in its so-called "Key Actions". This article addresses three of the main issues for potential applicants: the readiness for demonstration, the content of the consortium, and the dissemination strategy.