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Scientific Programmes
Sensorineural Pathology
In 2015 the seven groups in the Programme obtained major results in the scientific field, and as regards dissemination and cooperation with patients’ associations, both independently and in cooperation with other CIBERER groups, either in the programme itself or in other programmes.
As far as the scientific level is concerned, we should stress the development of cell and animal models of RD, above all orientated towards leadership in preclinical research into sensorineural RD as well as the development of genomic and diagnostic tools and the discovery of new genes. The groups’ most important publications and research projects are set forth in the specific section for each of the groups in this report.
As regards cooperation, we should stress that the programme took part in seven projects in the ACCI call, three of which ended in 2015 and the remaining four granted in the 2015 call. In 2015 all the groups took part in at least one ACCI and several of these were even participating in three of these.
Special mention should be given to the fact that the seven groups in the Programme are taking part in a new intramural project: MODCELANI_ CRISPR New animal models of rare sensorineural diseases generated by means of CRISPR-Cas9 technology. This project came into being at the meeting of the programme held as part of the Annual Meeting of the CIBERER in El Escorial this same year, in which it was agreed to submit a joint project in which the seven units in the programme take part, so as to reinforce the strategic positioning and the cooperation already existing between the groups forming part of this.
The programme held its 5th Annual Scientific Meeting on 26th and 27th at the Centro Nacional de Biotecnología (CNB-CSIC), as well as the encounter held as part of the Annual CIBERER Meeting mentioned above.
The groups in the programme arranged five scientific events with CIBERER financing, two International Symposia deserving special mention; Hereditary Hearing Impairment: from diagnosis to therapy (Fundación Ramón Areces, 5th and 6th March, Madrid) and Understanding human disease: New tools for new challenges (Universitat de Barcelona, 23rd November, Barcelona). There were also several other scientific events put on with their own financing at which their membership of CIBERER was clearly visible.
With regard to the training area, two groups in the programme arranged CIBERER courses, one on animal phenotyping (arranged by the SEFALER platform, coordinated by unit U761 and which U756 also forms part of) and another one on alternative models to the mouse.
The groups in the programme also cooperated with patients’ associations such as ASANOL (Asociación sobre la Atrofia del Nervio Óptico de Leber), ALBA (Asociación de personas con Albinismo) or FIAPAS (Confederación Española de Familias de Personas Sordas).
A cooperation agreement promoted through the programme was also signed by the CIBERER and the Red Temática de Investigación Cooperativa de Enfermedades Oculares “Oftared”.
22 I Annual report 2015 I CIBERER