Utrecht University researchers have worked with the Netherlands Organisation for Health Research and Development (ZonMw) to develop a knowledge agenda on rare diseases. This will be used by the Dutch Ministry of Health, Welfare and Sport to guide research and innovation in the field.
The breadth and heterogeneity of rare diseases pose a challenge. Limited patient populations and therefore limited market opportunities means certain types of rare diseases are ignored by research organisations and companies. In addition to this, the field covers a broad range of activities including fundamental research, prevention, diagnostics, therapy and care, some of which get more attention than others. This emphasises the need for additional support for research and innovation.