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The basic structure of CIBERER consists of Research Programmes (RPs) which allow grouping CIBERER units according to their areas of scientific interest . Organising into RPs allows optimizing resource allocation, strengthening research groups, promoting scientific, technical and clinical collaboration to improve scientific results and obtaining a higher degree of compliance with the proposed strategic objectives .
CIBERER programme structuring is complex, largely due to the idiosyncrasy inherent to the field of RDs, the field of medicine and the field of public health which covers over 7,000 diseases, mainstreaming all human organic systems . Conceptually speaking, 7 programmes are considered fundamentally taking into account the biological and historical aspect characterizing each RD either separately or as a group of diseases:
• Genetic Medicine Programme • Inherited Metabolic Medicine Programme • Mitochondrial and Neuromuscular Medicine Programme • Paediatric and Developmental Medicine Programme • Sensorineural Pathology Programme • Endocrine Medicine Programme • Hereditary Cancer and Related Syndromes Programme
Research groups join the different RPs according to the diseases in which they conduct their scientific work and the aspects about such diseases being investigated . The working of RPs is implemented by means of scientific, technical, translational and educational horizontal programmes and through research support platforms .
Each of the seven Research Programmes is presented below, providing a description of each one, their objectives, the rare diseases studied and the groups forming them .
16 CIBERER » Annual report 2014