Page 156 - CIBERER-2015-eng

Research Groups
Group U762
Programme: Mitochondrial and Neuromuscular Medicine Lead Researcher: Illa Sendra, Isabel
Group members
STAFF MEMBERS: Araque Palacios, Josefa | De Luna Salva, Noemí.
ASSOCIATED MEMBERS: Alejaldre Monforte, Aida | Díaz Manera, Jorge Alberto | Gallardo Vigo, Eduardo | Navas Madroñal, Miquel | Nogales Gadez, Gisela | Ortiz Losada, Esther | Querol Gutiérrez, Luis Antonio | Ramos Fransi, Alba | Rojas García, Ricardo | Suárez Calvet, Xavier.
Main lines of research
• Search for biomarkers in neuromuscular disorders: A) Search for new autoantibodies in immune-medi- ated NMD (Myasthenia, CIDP, NMM,..) and its corre- lation with specific phenotypes and new treatments. B) Analysis of miRNA profile in plasma/serum of pa- tients with muscular dystrophies, Pompe’s disease and myasthenia as biomarkers of the progresión of the different diseases C) Study of the secretome in human primary cultures of skeletal muscle from pa- tients with well- characterized to determine its utility as a biomarker of clinical progression and to gain knowledge of the pathogenesis of these diseases D) Serial studies of muscle MRI in patients with muscular dystrophies to establish patterns of in- volvement that may be useful for the differential di- agnosis and etiology of these diseases. In addition, quantitative studies of changes in muscle involve- ment to determine its utility as a non-invasive follow up test to monitor the efficacy of future treatments.
• Research of pathogenic mechanisms of NMD. : A) Study of pericytes from skeletal muscle as a source of cells for physiological muscle regeneration and as a source of cells for cell therapy in patients with muscular dystrophies. B) To study factors involved in muscle regeneration and fibrosis.C) To study the role of innate immunity in inflammatory myo- pathies. D) Analysis of subpopulations of B cells in patients with autoimmune NMD. E) Estudios epide- miológicos y genéticos en ELA.
• Spanish registry of NMD. A nationwide registry of patients with NMD in Spain is in progress with epi- demiological and research purposes (e.g search for new genes, clinical guidelines,...) At present, 4.500 patients have been registered. Twenty-seven hospi- tals in Spain participate in the registry and curator is in charge of the quality control of all data included in it (as part of CIBERER facilities).
156 I Annual report 2015 I CIBERER