Page 168 - MemoriaER-Eng
P. 168




RESEARCH GROUPS






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PROGRAMME:
Group U752
Inherited Metabolic 
Medicine




Group Members
Lead Researcher

Giraldo Castellano, Pilar
STAFF MEMBERS
Alfonso Palacn, Mara Pilar 

éóIrun Irun, Mara Pilar
Contact:
ASSOCIATED MEMBERS
Instituto Aragons de Ciencias de la Salud (IACS) 
Unidad de Investigación Traslacional. Capablo Liesa, Jos Luis 
Latre Martnez, Paz 
Hospital Universitario Miguel Servet. 
Po Isabel La Catlica 1-3. Zaragoza.
Pocov Mieras, Miguel 
Roca Espiau, Mercedes 
E.mail: [email protected] · Website: www.feeteg.org
Senz de Cabezn, 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 samples biobank.

• Study of biomarkers and inflammatory cytokines and its relationship with re- 
sponse to treatment.

• Study of bone disease by imaging techniques and its relationship with plasma 
biomarkers.

• Neurological disease evaluation by clinical, neurophysiological and imaging 13
methods.
20
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• Clinical research of new drugs on clinical trials (OGT-011, TKT034, TKT039, R
Protalix). Independent clinical trial.
PO
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• Epidemiology of hematological neoplasias. Gene expression marker study and L R
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search of polymorphisms accounting for familial aggregations.
NU
• Approach to study of internalization of nanoparticles containing small drug mol- N
 A
ecules on monocytes and macrophages and application to treat deposit dis-  /
eases.
ER
ER
• Analysis of the effect of pharmacological chaperones on protein mutants in B
Gaucher Disease.
CI

• Plasma miRNAs profile in Haematological malignancies and predictor use to 
168
developed acute leukaemia.






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