BACKGROUND: 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. METHODS: 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. RESULTS: 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.). CONCLUSION: RDs is a field with an enormous potential for European cooperation.
BACKGROUND: 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. METHODS: 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. RESULTS: 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.). CONCLUSION: RDs is a field with an enormous potential for European cooperation.
Authors: Emilia M Swietlik; Matina Prapa; Jennifer M Martin; Divya Pandya; Kathryn Auckland; Nicholas W Morrell; Stefan Gräf Journal: Genes (Basel) Date: 2020-11-26 Impact factor: 4.096
Authors: Casper Shyr; Maja Tarailo-Graovac; Michael Gottlieb; Jessica J Y Lee; Clara van Karnebeek; Wyeth W Wasserman Journal: BMC Med Genomics Date: 2014-12-03 Impact factor: 3.063
Authors: Heidi Eliana Mateus; Ana María Pérez; Martha Lucía Mesa; Germán Escobar; Jubby Marcela Gálvez; José Ivo Montaño; Martha Lucía Ospina; Paul Laissue Journal: BMC Res Notes Date: 2017-10-26