Page 4 - MEMOCiberer014-ENG

Letter from the Scientific Director
Prof. Francesc Palau
Scientific Director of CIBERER
It is undeniable that in 2014, CIBERER has solidified its position as a national and international example of research on Rare Diseases (RD), undoubtedly as a result of the collaboration between the different entities in the consortium and research groups making up the Centre and the work committed to national policies (2013-2016 State Plan for Scientific, Technical and Innovative Research) and international policies (Horizon 2020 R&D&I Programme of the European Commission and International Rare Disease Research Consortium- IRDiRC) in the area of the RD, which we have been developing over the past 8 years .
Our competitive advantage has come about because we are the only state-run centre capable of bringing together all the knowledge generated by diversified networking research activity, which is inevitable when addressing problems on rare diseases .
CIBERER has contributed in the area of innovations in health care processes, health services or organisational changes, for example through the participation of some of its groups in the Catálogo de Buenas Prácticas en el Ámbito de la Estrategia en Enfermedades Raras del Sistema Nacional de Salud, which was published in 2014 by the Ministry of Health, Social Services and Equality (MSSSI), or the follow-up of the evaluation of the Strategy, published in 2014 . This catalogue contains eight initiatives, four of which are developed by CIBERER research groups (U703, U707 and U737) .
Through the creation of the CIBERER Programme “Genes of Undiagnosed Rare Diseases (ENoD)” in 2011, an enormous project for the application of exome sequencing to a number of RDs for the purpose of being able to diagnose patients with RDs that was not previously possible despite comprehensive clinical and genetic studies . The first results published in international journals were obtained from this work, particularly during 2013 . This programme has been the basis for implementing in 2014 the Ciberer Exome Server and the SPANEX Project (database on exomes and genomic information and genetic variants of the Spanish population) . A new call for proposals is expected in 2015 for the ENoD Programme in order to elucidate new genes involved on RDs .
In the translational context, it should be pointed out that the CIBERER in this period has incorporated 20 Linked Clinical Groups (LCGs): 4 relating to the Paediatric Medicine and Development Research Programme (RP), 6 with the Inherited Metabolic Medicine RP, 5 with the Endocrine Medicine RP and the other 5 with the Hereditary Cancer and Related Syndromes RP . These 20 groups, distributed throughout 9 Spanish Regions and 16 hospitals within the National Health System, show the CIBERER’s obvious support for transferring research to clinical practice, carrying projects cooperative in specific pathologies .
In relation to the development of new therapies for RDs, the CIBERER has directly contributed in 2014 as a sponsor of a new orphan drug (OD) for anaemia due to kinase pyruvate deficiency in erythrocytes based on gene therapy . The therapy was designated as an orphan drug by the European Medicines Agency (EMA) (Reference EU/3/14/1330) . So CIBERER is the sponsor of a total of 2 ODs .
4 CIBERER » Annual report 2014