Comité National Maladies Rares, Luxembourg.
Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.
Ann Ist Super Sanita. 2019 Jul-Sep;55(3):296-304. doi: 10.4415/ANN_19_03_17.
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.
罕见病是指在欧洲每 10000 名居民中发病率低于 5 例的、危及生命或慢性衰弱的疾病。目前已经描述了约 6000 种罕见病，影响着欧洲 6%至 8%的人口。由于罕见病的严重性、多发性和多方面的特点，在公共卫生、医疗保健和研究方面的合作可以为其提供重要的综合附加值。主要政策行动领域包括：制定和实施欧洲参考网络，作为分享知识、临床专业知识和促进研究的主要战略；整合高质量的患者登记处、生物库和生物信息学支持，作为解决研究和医疗保健需求的关键基础设施工具；通过在欧洲层面的共同战略，分享经验、能力建设并将国家努力联系起来，在欧盟成员国实施罕见病国家计划；通过一级预防先天畸形的建议采取行动（病因具有多因素性的主要罕见病群组）；制定政策促进罕见病药物的研发。
