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Research Groups
Group U705
Programme: Genetic Medicine
Lead Researcher: Baiget Bastús, Montserrat
Group members
STAFF MEMBERS: Alías Andreu, Laura | González Quereda, Lidia | Salazar Blanco, Juliana.
ASSOCIATED MEMBERS: Gallano Petit, María Pía | Lassa Laborde, Adriana | Páez López-Bravo, David | Tiz-
zano Ferrari, Eduardo.
Main lines of research
• 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. Stud- ies of the molecular pathology, disease mech- anisms and expression of SMN gene. 2. Identi- fication 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. Molecular characterization of circulating tumor
cells (CTCs) through expression profiling in breast cancer patients. 3. Analysis of free circulating tu- mor 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: mo- lecular pathology of DMD gene.
• Elaborationofmoleculardiagnosticpanelsinhe- reditary monogenic pathology by means of the nanofluid system and massive sequencing.
48 I Annual report 2015 I CIBERER
