Page 168 - MemoriaER-Eng

RESEARCH GROUPS

á

í
í

ó
í
íí
é

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
T
• Clinical research of new drugs on clinical trials (OGT-011, TKT034, TKT039, R
Protalix). Independent clinical trial.
PO
E
• Epidemiology of hematological neoplasias. Gene expression marker study and L R
A
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.