Page 136 - CIBERER-2015-eng

Research Groups
Group U752
Programme: Inherited Metabolic Medicine Lead Researcher: Giraldo Castellano, Pilar
Group members
STAFF MEMBERS: Alfonso Palacín, María Pilar.
AT THE EXPENSE OF THE PROJECT: Irún Irún, María Pilar.
ASSOCIATED MEMBERS: Andrade Campos, Marcio | Capablo Liesa, José Luis | Latre Martínez, Paz | Pocoví Mieras, Miguel | Roca Espiau, Mercedes | Sáenz de Cabezón Álvarez, Alicia.
Main lines of research
• Gaucher disease epidemiology, in Spain: National Registry acredited by ISO 9001 (Num EC2751/07).
• Genetic analysis and search of genes related to clinical heterogeneity. Directed mutagenesis. DNA, serum, plasma and leukocyte patient sam- ples biobank.
• Studyofbiomarkersandinflammatorycytokines and its relationship with response to treatment.
• Studyofbonediseasebyimagingtechniquesand its relationship with plasma biomarkers.
• Neurologicaldiseaseevaluationbyclinical,neuro- physiological and imaging methods.
• Clinical research of new drugs on clinical trials (OGT-011, TKT034, TKT039, Protalix). Independ- ent clinical trial.
• Epidemiology of hematological neoplasias. Gene expression marker study and search of polymor- phisms accounting for familial aggregations.
• Approach to study of internalization of nanopar- ticles containing small drug molecules on mono- cytes and macrophages and application to treat deposit diseases.
• Analysis of the effect of pharmacological chaper- ones on protein mutants in Gaucher Disease.
• Plasma miRNAs profile in Haematological ma- lignancies and predictor use to developed acute leukaemia.
136 I Annual report 2015 I CIBERER