April 7, 2015
On August 2014, orphan designation was granted by the European Commission to Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas-Centro de Investigación Biomédica en Red de Enfermedades Raras and Instituo de Investigación Sanitaria-Fundación Jiménez Díaz (CIEMAT/CIBERER/IIS-FJD), Spain, for the “lentiviral vector containing the human liver and erythroid pyruvate kinase (PKLR) gene” for the treatment of pyruvate kinase deficiency.
March 18, 2015
The EURORDIS Awards recognize the contribution of patients’ associations, caregivers, volunteers, scientifics, media and companies that contribute day-by-day, hand-in-hand to reducing the impact of rare diseases on people’s lives.
March 4, 2015
State of the art scientific researches to achieve the cure for beta thalassaemia are closer than ever to reach their goals. The U.S. Food and Drug Administration (FDA) supports two potential definitive treatments for beta thalassaemia that stem from the companies Bluebird bio and Sangamo BioSciences.
February 10, 2015
Every last day of February, Rare Disease Day takes place all over the world. Since first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people with the common objective of raising awareness about rare diseases among population, specialists and media.
January 23, 2015
When it comes to rare diseases, having access to experts in the field that provide specific treatments can become a real challenge. With the idea of sharing the knowledge between healthcare professionals across borders in order to have the most recent and reliable information, European Reference Networks are born.
December 15, 2014
“We hope that the work carried out in this EUROPLAN II Conference was helpful to transmit the urgent and essential need for rare diseases in Spain to become a social priority, creating concrete lines of action” Juan Carrión, FEDER President.
December 10, 2014
The ESH-ENERCA course on the Laboratory Diagnosis and Clinical Management of Haemoglobin Disorders will be held in Barcelona on January 23-24, 2015.
December 9, 2014
ENERCA White Book is a position paper, developed as a deliverable of the ENERCA 3 project that intends to contribute to the creation of a European Reference Network in Rare Anaemias (ERN-RA) by preparation of the recommendations and, in particular, the definition of the criteria that Centres of Expertise (CoE), local centres (LC) and their interrelations have to fulfil as healthcare providers. It has been nourished by all the activities that have been performed over the past ten years within the ENERCA framework.
December 4, 2014
Prof. Joan Lluis Vives Corrons, coordinator of the ENERCA network was interviewed by the Sant Cugat Television (TV25) in order to approach anaemias to common population and present ENERCA features in the field of rare anaemias.
November 25, 2014
CATGLOBIN, Catalan network for the diagnosis and monitoring of haemoglobinopathies and thalassemia is a project funded by Marató TV3. In collaboration with the Public Health Agency of Catalonia, launched a universal newborn screening for sickle cell disease pilot study in March 2013. Beyond the lifetime of the pilot study the implementation of systematic and universal neonatal screening for haemoglobinopathies in the early detection official program of Catalonia has been imminent and will start in the beginning of 2015.