InNerMeD participated in the public Consultation on “Gaucher Disease

Rare diseases as a public health priority

Rare diseases prevalence is so low (less than 5 persons every 10,000) and related knowledge and expertise are so limited that special combined efforts are required to address the specific problems and needs of affected patients who generally experience great inequalities among different Member States and even different regions in the same Member State.

The necessity of improving diagnosis and facilitating research, the existence of unequal access to expert services and rare disease therapies, are among the main reported topics. To overcome these gaps European Union has recognised rare diseases as a Public Health priority and action in this field have been undertaken in the last years in order to pool together in a coordinated approach the very limited resources.

Following the very successful Public Consultation on Rare Diseases in November 2007, the adoption of the Commission Communication on Rare Diseases, in November 2008 and the more recent adoption of EU Council Recommendation 2009/C 151/02 on an action in the field of rare diseases, many EU Member States have implemented national rare diseases plans aimed at guiding and structuring relevant actions in the field of rare diseases within the framework of their health and social system. In particular, National Plans main objectives consist in ensuring equal access and availability of prevention, diagnosis, treatment and rehabilitation for patients affected by rare diseases.

The adopting of a harmonised strategic plan to tackle rare diseases implies taking advantage of ongoing actions establishing a Collaborative relationship among EU Member States. Cross border cooperation represents in fact the vital key tool for an EU action aimed at improving the chance for patients to get appropriate and timely diagnosis, information and care through Europe. To read more info about Rare Diseases National Plans or to download National Plans or strategies on Rare Diseases adopted by the Member States please visit: