Montserrat Moliner A, Waligóra J
Directorate of Public Health, European Commission, Luxembourg, Luxembourg.
Public Health Genomics. 2013;16(6):268-77. doi: 10.1159/000355930. Epub 2014 Feb 3.
Rare diseases (RDs), including those of genetic origin, are defined by the European Union (EU) as life-threatening or chronically debilitating diseases, which are of low prevalence (fewer than 5 per 10,000). The specificities of RDs - a limited number of patients and scarcity of relevant knowledge and expertise - single them out as a unique domain of a very high European added value.
Legal instruments at the disposal of the EU, in terms of Article 152 of the Treaties, are very limited. However, a combination of instruments using the research and the pharmaceutical legal regulations, an intensive and creative use of funding from the Second Health Programme, the adoption of the Commission Communication in November 2008, the Council Recommendation in June 2009, and the Directive on cross-border healthcare in 2011 have permitted the creation of a solid basis that Member States have considered as sufficient to place RDs in a privileged position in the health agenda.
As a result, an operational framework to act in the field of RDs with European coordination in several areas would be possible (orphan medicinal products, national plans on rare diseases, ICD-10 revision, European Reference Networks, European Platform for Rare Diseases registration, IRDiRC, European Committee of Experts, etc.).
RDs is a field with an enormous potential for European cooperation.
包括遗传起源疾病在内的罕见病（RDs），被欧盟定义为危及生命或导致慢性衰弱的疾病，其患病率较低（每万人中少于5例）。罕见病的特殊性——患者数量有限以及相关知识和专业技能稀缺——使其成为具有极高欧洲附加值的独特领域。
根据条约第152条，欧盟可利用的法律工具非常有限。然而，综合运用研究和药品法规工具、充分且创造性地利用第二个健康计划的资金、通过2008年11月的委员会通报、2009年6月的理事会建议以及2011年的跨境医疗指令，得以建立起一个坚实基础，各成员国认为这足以使罕见病在健康议程中占据优先地位。
因此，有可能建立一个在多个领域进行欧洲协调的罕见病行动操作框架（孤儿药品、国家罕见病计划、国际疾病分类第１０版修订、欧洲参考网络、欧洲罕见病注册平台、国际罕见病研究协作网、欧洲专家委员会等）。
罕见病是一个极具欧洲合作潜力的领域。
