Page 78 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
Group U705
Genetic Medicine

Group Members
Lead Researcher

Tizzano Ferrari, Eduardo
STAFF MEMBERS
Alas Andreu, Laura
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Gonzlez Quereda, Lidia
Contact:
Salazar Blanco, Juliana
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Servicio de Gentica del Hospital de Sant Pau
Sant Quint, 89. 08041 Barcelona ASSOCIATED MEMBERS
Baiget , Montserrat
Phone: (+34) 93 553 73 76 · E.mail: [email protected]
Website: http://www.iibsantpau.cat/portal/ca/iib/112458
Barcel Rubira, Ma Jess
Cornet Ciurana, Mnica

del Ro Conde, Elisabeth
Domenech Mara, Montserrat
Main lines of research
Domingo Pedrol, Pere

Gallano Petit, Ma Pa • Study of clinical-genetic heterogeneity of limb-girdle muscular dystrophies
Juan Mateu, Jons exhibiting autosomal recessive transmission and autosomal dominant trans-

Lassa Laborde, Adriana mission.
Pez Lpez-Bravo, David
• Mutational and expression study in the dysferlin gene: association with three
Rodrguez Fernndez, Ma Jos
different phenotypes: C63 Miyoshi’s myopathy and distal anterior myopathy.

• Studies of molecular pathology, mechanisms of disease, SMN gene expres-
sion and the expression of possible modifying genes in spinal muscular

atrophy.

• Development of iPSCs in patients with spinal muscular atrophy as a neuronal

model of study of the disease.
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• Study of spinal muscular atrophy as a human developmental disease.
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• Hereditary breast cancer.
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• Identification and characterization of circulating tumor cells (CTCs) in pa- L R
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tients with breast cancer: identification of a prognostic gene expression NU
profile.
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• Pharmacogenetics: Adverse drug reactions. ER
ER
• Congenital coagulopathies: molecular pathology of hemophilia and von
B
Willebrand disease.
CI

• Elaboration of molecular diagnostic panels in hereditary monogenic pathol-
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ogy by means of the nanofluid system and massive sequencing.