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Chaperones in Lysosomal Diseases and other Applications on 27-28 November in Zaragoza . In this encounter, the purpose of which was to provide updated information about the use of pharmacological chaperones in this type of pathologies for professionals in biomedicine involved in the diagnosis and treatment . Dr . José Luis Urdiales-U741 also participated in the conference .
• 2nd National Day commemorating Xeroderma Pigmentosum and other Premature Skin Ageing Diseases, organised by the CIBERER, Fundación Jiménez Díaz and the CIEMAT, on 10 December in Madrid, coordinated by Dr . Marcela del Río-U714 . Advances in different lines of research were presented, offering discussions about the relationship between telomeres and disease, genetics and molecular diagnosis, basic and clinical research, the proposal of a national clinical trial with Imiquimod, telomere shortening or the role of the ERCC4 gene in xeroderma pigmentosum .
• CIBERER and the Fundación Ramón Areces organised an International Symposium on Hereditary Peripheral Neuropathies on 11-12 December in Madrid . This encounter addressed the clinical framework of peripheral neuropathies, Charcot-Marie-Tooth (CMT) disease, the most common type among them, genetic diagnosis, the physiopathology and neuropathology of CMT, animal models for research, biomarkers and the discovery of new drugs .
• Health care managers from hospitals in 10 Spanish Regions, basic researchers and members of the Asociación HHT España for patients participated in the 2nd Meeting of the HHT Network Project held on 12 December in Madrid . The purpose of this initiative is the joint work for the diagnosis, treatment and follow-up of patients with Hereditary Haemorrhagic Telangiectasia (HHT) . CIBERER collaborated in this meeting, through unit U707, with its two pillars: the basic research led by Dr . Carmelo Bernabéu at the CIC/CSIC, and the clinical research coordinated by Dr . Roberto Zarrabeitia in the HHT Unit of Hospital Sierrallana of Cantabria .
In some of these activities, patients with RDs, their family members or their associations also actively participated, even though they are not the specific target audience . In addition, CIBERER also potentiates and supports a number of conferences and meetings intended for patients, or it collaborates in those organised by their associations . See the section on Dissemination Activities .
DISSEMINATION OF THE TRANSLATIONAL ACTIVITY OF CIBERER
The act of par excellence of dissemination of the translational activity of CIBERER is the Conference called “Investigar es Avanzar”, comprised within the acts held on World Rare Disease Day . This year, the act was jointly organised by CIBERER and the Federación Española de Enfermedades Raras (FEDER) on 26 February at the Centro de Investigación Príncipe Felipe in Valencia . See the section on Dissemination Activities .
CIBERER sponsored together with the Centro Nacional de Análisis Genómica (CNAG) the exposition entitled “Menos raras” organised by the Associació Catalana de Comunicació Científica (ACCC) . This exposition was about research on RDs where advances made in Usher, Lafora, Wolfram, Fragile X, Fanconi, Williams-Beuren, dyskeratosis, retinal dystrophies, Lowe, AME and ALS were disclosed . The exposition could be seen from 1-24 April in the Biblioteca de la Sagrada Familia of Barcelona .
Dr . Carmen Ayuso-U704 participated on behalf of the CIBERER in the Conference called “Actualización de Recursos de Atención en Enfermedades Raras” organised by the Centro de Referencia Estatal a Personas con Enfermedades Raras y sus Familias (CREER) of Burgos on 24 June, presenting the translational research work for CIBERER .
CIBERER also organised a Dissemination Conference in the Facultad de Medicina of Ciudad Real on 3 November, entitled “Introducción a las Enfermedades Raras: el valor de la investigación traslacional” .
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