Page 89 - MemoriaCIBER-2017ENG

Mitochondrial and Neuromuscular Medicine
Coordinator: Francesc Palau Martínez
On the scienti c level we should stress the progress made as regards tackling diseases which have the physiopathological target of mitochondria and a ect the individual’s bioenergetic balance, through the study of the genome-mitochondria communication and of physiopathology and disease mechanisms in cell and IPSC models, of the promotion of translational research and of therapeutic research from the development of animal models to the preclinical stage and biomarkers, especially in neuromuscular pathologies
Some of the more signi cant achievements in the therapeutic stage are the search for therapeutic strat- egies for mitochondrial diseases with nucleosides or approaches with gene therapy
Major work continues to be done by the groups in the programme as regards registries: Registro Español de Enfermedades Neuromusculares NMD-ES, Registro de Enfermedades Mitocondriales (in cooperation with AEPMI-Asociación de Enfermos de Patologías Mitocondriales and the Fundación Ana Carolina Díaz Mahou) and the Registry of patients a ected by McArdle’s disease (EUROMAC)
The groups in the programme have also taken an active part in cooperation with patient’s associations such as AEPMI and ASEM (Federación Española de Enfermedades Neuromusculares), amongst others
Lastly, they arranged di erent meetings or events of interest, from which we could highlight the follow- ing:
• 5th Annual Scienti c Meeting of the Research Programme, held on 12 December at the Hos- pital San Joan de Déu de Barcelona
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International Symposium: Defects in aminoacid transport, coordinated by three CIBERER groups; the ones led by Jorguina Satrústegui, Virginia Nunes and Manuel Palacín, held on 20 and 21 November, at the headquarters of the Fundación Ramón Areces in Madrid
Participation of several investigators at the National Congress of Neuromuscular Diseases, arranged by the Federación Española de Enfermedades Neuromusculares (Federación ASEM) and the Asociación de Enfermos Musculares de Granada (ASEMGRA), held in that city on 24 and 25 November
• Session on limb-girdle muscular dystrophy LGMD1F, associated with the transportin-3 gene (HIV carrier), organised by the Asociación Conquistando Escalones de familias LGMD1F, the Regional Health Ministry of the Generalitat Valenciana Authority, IIS La Fe, the Universitat de València and the CIBERER, held at the Hospital La Fe de Valencia on 22 September with the participation of the groups led by Juan J Vilchez and Ramón Martí