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In summary, updating RD registries is one of the translation activities with the most long-term added value because it allows knowing the epidemiology of these pathologies the knowledge of which is biased due to the low prevalence of RDs .
OTHER TRANSLATIONAL ACTIVITIES: CONFERENCES, ENCOUNTERS AND MEETINGS
Both CIBERER as a Research Centre and the researchers that are part of take part in a number of conferences, encounters and meetings in order to disclose the results of their research with other colleagues on a national level, and by inviting internationally known speakers to therefore achieve an exchange of knowledge that has a direct effect on the collective advancement in the understanding of processes causing the diseases they study . Some of these activities performed in 2014 were:
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• Conference on the treatment of Pyruvate Kinase Deficiency, organised by Dr . José Carlos Segovia and Dr . Juan Bueren-U710 in the CIEMAT of Madrid on 1 April . Presentation of the latest novelties in gene therapy for the treatment of Pyruvate Kinase Deficiency as an example of erythropathy .
• CIBERER participated in the 7th European Conference on Rare Diseases and Orphan Drugs (ECRD 2014), organised by EURORDIS in Berlin on 8-10 May . CIBERER presented a poster on the work conducted as coordinator of the EJA WP7 with the intervention of Dr . Francesc Palau .
• The Adult Rare Disease Work Group of Hospital Clínic-CIBERER organised the “IV Jornada del Grupo de Enfermedades Minoritarias del Adulto: de los aspectos básicas a las unidades expertas” on 30 May in Hospital Clínic de Barcelona . In this encounter, research in intermittent acute porphyria, rare anaemias and Lafora disease was explained . Professor Santiago Rodríguez de Córdoba-U738 was responsible for the discussion of Lafora disease .
• Familial Cancer Conference, organised by Dr . Javier Benítez-U706 on 5-6 June in the CNIO of Madrid . The most recent advances and ongoing projects in relation to hereditary cancers were presented in this conference from a multidisciplinary viewpoint .
• Dr . José María Millán, Assistant Scientific Director of the CIBERER, claimed that there is a need for research at a Conference for Exposure of Rare Diseases organised by the enterprise Genagen, FEDER and CIBERER on 19 June in Valencia .
• 7th International Congress of the Spanish Fanconi Anaemia (FA) Research Network, organised by Dr . Juan Bueren-U710 and Dr . Jordi Surrallés-U745, on 6-7 October at the Instituto de Biomedicina of Seville . The Congress brought together, on one hand, basic expert scientists in molecular biology of the FA DNA repair pathway and clinical experts in the field applying the newest therapies . On the other hand, members of the Asociación Española de la Anemia de Fanconi (AEAF) attended the congress to obtain first-hand updated information about the disease and about the first lines of research for the prevention or cure of this disease .
• CIBERER co-organised with INGEMM and AEGH a Conference on Dysmorphology on 8 October in Madrid . In this forum, there was a presentation and informal discussion of rather uncommon cases of dysmorphology aimed at specialists in the matter, such as clinical geneticists, paediatricians, surgeons or pathologists . The conference was coordinated by Dr . Pablo Lapunzina-U753, Dr . Sixto García-Miñaúr-INGEMM, and Dr . Encarna Guillén-Navarro-LCG-Hospital Universitario Virgen de la Arrixada of Murcia .
• CIBERER collaborated in the organisation of the 4th Conference on Fragile X Syndrome and other Genetic Disorders causing Autism, at Hospital Materno Infantil of Malaga, on 10-11 October . The LCGs which work with CIBERER and led by Dr . Feliciano Ramos, Dr . Jordi Rosell and Dr . Isabel Tejada, as well as Dr . Montserrat Milà-U726, all participated in the conference .
• Dr . Pilar Giraldo-U752 organised the 2nd Aragon Conference on Pharmacological CIBERER » Annual report 2014