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The Programme held its 6th Annual Scientific Meeting on 1 December at the Hospital Ramón y Cajal in Madrid, as well as the one that took place as part of the CIBERER’S annual general meeting.
The groups in the programme organised different scientific events with CIBERER financing, among which we could stress the International Symposium “Plataformas Internacionales de investigación biomédica y su valor en el estudio de las enfermedades raras” (Fundación Ramón Areces, 3 and 4 November, Madrid “Avanzando hacia las nueva terapias: Retos actuales de los pacientes” along with the Asociación ES Retina Asturias (Universitat de Barcelona, 8 October) and “V Jornada de Lengua de Signos Española aplicada a la Consulta de Genética”, (Hospital Clínico San Carlos, 11 March). There were also other scientific events with our own financing in which it was clearly visible that these belonged to the CIBERER.
As regards the training field, several CIBERER courses have been arranged by groups in the programme, one on the phenotyping of animals (organised by the SEFALER platform, whose coordination is handled by unit U761, Dr. Varela, and which U756, Dr. Montoliu, also forms part of), another on models alternative to mice by unit U728 (Dr. Moreno) and another on tools for gene edition by unit U756, Dr. Montoliu (along with U710, Dr. Bueren and VIVEbioTECH).
The groups in the programme have also cooperated with patients’ associations, this year stressing the cooperation with such organisations 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).
The Programme has also supported the production of a short documentary “¿Lo ves?” which also received financing from the ONCE and was sponsored by the Fundación Divina Pastora
and the Asociación de Ayuda a personas con Albinismo (ALBA). Written and directed by Patty Bonet, who has the genetic condition of albinism, it displays the visual limitations which its author has to face in everyday situations.
Endocrine Medicine
Coordinator: Susan Webb
In 2016 the Endocrine Medicine programme carried out the main phase of the project entitled: “Silent corticotroph adenomas: Do these constitute a subtype of the non-functioning pituitary adenoma with a more aggressive clinical behaviour?”, financed by the CIBERER to combine the Linked Clinical Groups in the Programme with the full-member groups led by Dr. Webb and Dr. Castaño. This project enabled the joint study of the collections of clinical cases of the groups which were disperse until now, in order to review the classification of this type of adenomas.
Quite apart from the major contribution made by the Linked Clinical Groups one should bear in mind that this Research Programme is made up of only three full-member research groups and a fourth associated group.
The Endocrine Medicine Programme worked with the CIBER’S own funds on dissemination of the research and contact with the patient by taking different measures in 2016: organising the Session on “Las hormonas tiroideas y su música. Hormonas tiroideas y desarrollo del sistema nervioso central Patologías asociadas:
de lo común a lo raro” led by Dr. Morte (U708), in which an innovative perspective on the causes and physiology of these disorders was disclosed. Action was also taken on the adaptation and translation
of online content in the form of informative videos intended for persons affected by adrenal failure by attached researcher I. Crespo (U747).
As regards significant scientific progress, we could mention the description of epigenetic bases of the Cushing syndrome, new tools for its assessment and clinical handling; also for acromegaly, with the publication of a study concerning the quality of life in cooperation with the affected persons, along with others with regard to treatments for Mct8 deficiency.
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