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leaD reSearcHer
Illa Sendra, Isabel
Instituto de Investigación del Hospital de la Santa Cruz y San Pablo
S Antoni Ma Claret 167
08025 Barcelona
(+34) 93-5565977 [email protected] group website
GROUP MEMBERS
Staff members: Araque Palacios, Josefa | De Luna Salva, Noemí | Segovia Simón, Sonia
Associated members: Alejaldre Monforte, Aída | Díaz Manera, Jorge Alberto | Gallardo Vigo, Eduardo | Navas Madroñal, Miquel | 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- mediated NMD (Myasthenia, CIDP, NMM, dermatomyositis..) and its correlation with specific phenotypes and new treatments. B) Analysis of miRNA profile in plasma/serum of patients with muscular dystrophies and Pompe’s disease as biomarkers of the progression of the different diseases C) Study of the secretome in human primary cultures of skeletal muscle from patients 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 involvement that may be useful for the differential diagnosis and aetiology of these diseases. In addition, quantitative studies of changes in muscle involvement to determine its utility as a non- invasive follow up test to monitor the efficacy of future treatments.
• Research of pathogenic mechanisms of NMD: Analysis of factors involved in muscle regeneration and fibrosis. B) Inhibition of proteasome in muscular dystrophies as a therapeutic approach, C) To study factors involved in muscle regeneration and fibrosis.C) To study the role of innate immunity in inflammatory myopathies. D) Analysis of subpopulations of B cells in patients with autoimmune NMD. E) Epidemiology and genetics of ALS. F) Role of autoantibodies in myasthenia: clinical correlations.
• Spanish registry of NMD: A nationwide registry of patients with NMD in Spain is in progress with epidemiological and research purposes (e.g search for new genes, clinical guidelines...) At present, 5.166 patients have been registered. Twenty-eight hospitals in Spain participate in the registry and a curator is in charge of the quality control of all data included in it (as part of CIBERER facilities).
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PROGRAMMES
Mitochondrial and Neuromuscular Medicine