Page 81 - MemoriaCIBER-2018ENG

Sensorineural Pathology
Coordinator:
Lluis Montoliu José
In 2018 the 7 groups forming the Programme obtained some major scientific results in dissemination and cooperation with patients’ associations,both independently,and in cooperation with other CIBERER groups.
On the scientific level we should stress the development of new cell and animal models of
RD, above all oriented towards leadership in the preclinical research into sensorineural RD,as well as the development of genomic diagnosis tools and the discovery of new genes.
In 2018 all the groups in the programme were taking part in intramural projects. In the Call for Work Groups, 2 of the 11 groups are coordinated by groups from the PdI entitled: “Genomic edition and gene therapy” and “Animal models of human diseases”,and groups from the programme are taking part in a further 3 Work groups .
The NanoCrisprAlbino Therapy project illustrates the inter-area cooperation from the call for the Platform for Support for Internationalisation of the CIBER, coordinated by Lluís Montoliu with the participation of the group led by José Luis Pedraz (CIBER- BBN).
We should also stress the start of the project entitled RAREGenomics (Network for Research into Rare Diseases of Madrid Community), granted in the Biomedicine call of the CAM 2017, coordinated by Carmen Ayuso, in which a further 6 CIBERER groups are taking part,including Miguel Ángel Moreno, from this PdI. This project was awarded the FEDER Award for the best project in 2018 for fostering research by means of networking.
Endocrine Medicine
Coordinator:
Susan Webb
This research programme is made up of only three full research groups and a fourth associated
In the field of training, several courses and symposia have been arranged:
• Fundación Ramón Areces Symposium: “Applications of gene editing on research and therapy of human rare diseases”, coordinated by Lluís Montoliu and José Carlos Segovia, held at the Fundación Ramón Areces on 25 and 26 January.
• 8th edition of the CNAG-CIBERER Symposium on “Medicina Genómica aplicada a Enfermedades Raras”, coordinated by Carmen Ayuso, held on 5 July at the Fundación Jiménez Díaz.
• 9th Edition of the CIBERER Course for training in phenotyping, coordinated by Isabel Varela- Nieto, held from 28 to 30 November at the Colegio Oficial de Veterinarios de Madrid (with the cooperation of CIBERCV, CIBERONC and CIBERDEM).
There have been different appointments and awards granted to researchers from the programme:
Isabel Varela-Nieto was appointed president of the International Committee of the Association for Research in Otolaryngology (ARO) and president- elect of the Sociedad Española de Bioquímica y Biología Molecular (SEBBM); Carmen Ayuso was given the Fenin Award for Technological Innovation 2018 and Lluís Montoliu obtained an award from the International Society for Transgenic Technologies (ISTT), the Asociación Española de Científicos (AEC), as well as SINC agency.
Another achievement as regards cooperation with patients’ associations was the book entitled “¿Qué es el albinismo?”, published by ALBA, co- sponsored by the CIBERER and written by Lluís Montoliu.
The PdI closed the year with its annual meeting, held at the Centro de Biología Molecular “Severo Ochoa” (CSIC-UAM) on 21 November, with the participation of Retina Madrid and Fundación Retina España, the Federación de Asociaciones de Retinosis Pigmentaria de España and Fundación Lucha Contra la Ceguera (FARPE-FUNDALUCE).
group, which is the reason for the importance
of incorporating the additional strength of the Linked Clinical Groups. 2018 was the year for closing the project entitled: “Silent corticotroph adenomas: do these constitute a subtype of non-functioning pituitary adenomas with a more aggressive conduct?” Financed by the CIBERER, this project enabled combining the Linked Clinical Groups from the programme with the
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CIBERER | ANNUAL REPORT 2018