European Project for Rare Diseases National Plans Development (EUROPLAN)

European Project for Rare Diseases National Plans Development (EUROPLAN)

EUROPLAN (http://www.europlanproject.eu) is a three year EU funded project (2008-2011) coordinated by the Italian National Centre for Rare Diseases (Istituto Superiore di Sanità, Italy), which involves 30 Countries and EURORDIS. The Council Recommendations on European Action in the field of Rare Diseases (RD) which was adopted by the EU Council in June 2009 calls upon Member States to adopt Nat...

Recommendations for the development of national plans for rare diseases

Rare diseases are a threat to the health of EU citizens, in so far as they are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Despite their rarity, there are so many different types of rare diseases that millions of people are affected. The focus on rare diseases and the recognition of the fact that rare diseases have common issues in...

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in r...

National Plan for Rare Diseases

Rare Diseases in the Slovak Republic Europlan National Conference the Reality of the Management in Patients with Rare Inborn Metabolic Diseases in Slovakia

Recently, from 6,000 to 8,000 rare diseases have been registered, of which over 1,000 are inherited metabolic diseases. In Slovakia, a nationwide newborn screening for phenylketonuria − an inherited metabolic disease that occurred frequently in our country − has been performed over the last 40 years. Special workplaces in Bratislava, Banská Bystrica and Košice were set up to provide optimal ava...