Policies and actions to tackle rare diseases at European level




Rare diseases (RDs) are defined by the European Union as life-threatening or chronically debilitating conditions, with a prevalence lower than 5 per 10 000 inhabitants. Around 6000 diseases are described, affecting between 6% and 8% of the European population. Due to their severity, diffusion and multi-faceted aspects, RD are an area where collaboration in public health, health care and research provides a major integrated added value. Main areas for policy actions include: the development and implementation of European Reference Networks, as a main strategy for sharing of knowledge, clinical expertise and foster research; integration of high-quality patient registries, biobanks, and bioinformatics support, as key infrastructure tools addressing research and healthcare needs; the implementation of National Plans on RD in EU Member States by sharing experiences, capacity building and linking national efforts through a common strategy at a European level; actions driven by the recommendations for primary prevention of congenital anomalies (the main RD group with multifactorial aetiology); policy provisions to foster

research and development of orphan drugs.


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Antoni Montserrat

Domenica Taruscio

How to Cite
Montserrat, A., & Taruscio, D. (2019). Policies and actions to tackle rare diseases at European level. Annali dell’Istituto Superiore Di Sanità, 55(3), 296–304. Retrieved from https://annali.iss.it/index.php/anna/article/view/953
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