Policies and actions to tackle rare diseases at European level

Antoni Montserrat, Domenica Taruscio

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)296-304
Number of pages9
JournalAnnali dell'Istituto Superiore di Sanita
Issue number3
Publication statusPublished - Sep 26 2019


  • European Union
  • Health Policy/trends
  • Health Services Research/trends
  • Humans
  • International Cooperation
  • Rare Diseases/therapy
  • Registries


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