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RESEARCH GROUPS
Group U705
Programme: Genetic Medicine
Lead Researcher: Baiget Bastus, Montserrat Group Members
STAFF MEMBERS: Alías Andreu, Laura | González Quereda, Lidia | Salazar Blanco, Juliana
ASSOCIATED MEMBERS: Barceló Rubira, María Jesús | Cornet Ciurana, Mónica | Domenech María, Montse- rrat | Gallano Petit, María Pia | Juan Mateu, Miquel Jonas | Lassa Laborde, Adriana | Páez López-Bravo, David | Río Conde, Elisabeth Del | Rodríguez Fernández, María José | Tizzano Ferrari, Eduardo
Main lines of research
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Study of clinical and genetic heterogeneity of limb-girdle muscular dystrophy of autosomal recessive inheritance and autosomal dominant transmission .
Spinal muscular atrophy and SMN genes: 1 . Studies of the molecular pathology, disease mechanisms and expression of SMN gene . 2 . Identification of modifier genes . 3 . Study of biological markers for validation of treatment for spinal muscular atrophy . 4 . Study of the neuromuscular junction in human development .
Hereditary breast cancer and BRCAs genes: 1 . Identification of mutations and genetic variants . 2 . Mo- lecular characterization of circulating tumor cells (CTCs) through expression profiling in breast cancer patients . 3 . Analysis of free circulating tumor DNA (cfDNA) as a predictor of response to treatment of breast cancer .
Pharmacogenetics: Adverse drug reactions .
Congenital coagulopathies: molecular pathology of haemofilias .
Duchenne and Becker muscle dystrophies: molecular pathology of DMD gene .
Elaboration of molecular diagnostic panels in hereditary monogenic pathology by means of the na- nofluid system and massive sequencing .
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