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national Rare Diseases Research Consortium IRDiRC, as well as its participation 
in projects funded by the European Commission for the development of European 

networks on metabolic diseases, E-IMD and E-HOD.

2013 was officially declared the “Spanish Year of Rare Diseases” by the Ministry of 

Health, Social Services and Equality. This initiative seeks to make citizens aware 
of these pathologies and to spark the interest of investigators, professionals and 

the industry, and its focus point lies in health, scientific and social perspective. 
CIBERER actively participated by organizing activities under that motto, such as 

organizing two International Symposiums together with the Ramón Areces Foun- 

dation (one on Mitochondrial Diseases and the other on Intellectual Impairment), 
organizing the 4th edition of the “DNA Day CIBERER Workshop” or the 5th CIBE- 

RER Conference “To conduct research is to move forward (Investigar es Avanzar)”.

The Scientific Report herein presented is the summary of what the CIBERER has 

contributed to advancement in biomedical research and translation in RD, which 
is the primary target of our efforts, this year. I cannot end this letter without first 

expressing gratitude for the support offered by the groups making up the CIBE- 
RER and the team of scientific managers, without whom all these achievements 

and the holding of our institution in a state-of-the-art position in the scientific pa- 

norama would have been impossible. From here I would like to express our com- 
mitment to continue conducting quality research for the benefit of people suffering 

rare diseases as well as their families.



Prof. Francesc Palau

Scientific Director of the CIBERER

























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