Page 82 - CIBERER2016-ENG
P. 82
leaD reSearcHer
Gallano Petit, María Pía
Instituto de Investigación del Hospital de la Santa Cruz y San Pablo
S Antoni Ma Claret 167
08025 Barcelona
(+34) 93 291 90 50 ext7369
group website
GROUP MEMBERS
Staff members: Alías Andreu, Laura | González Quereda, Lidia | Salazar Blanco, Juliana Associated members: Lassa Laborde, Adriana | Páez López-Bravo, David
Main lines of research
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. Clinical/Genetic Study of familiar ALS.
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 tumor DNA (cfDNA) as a predictor of response to treatment of breast cancer. Pharmacogenetics: Adverse drug reactions.
Congenital coagulopathies: molecular pathology of haemofilias. NEUROMUSCULAR DISORDERS:
• •
•
Duchenne and Becker muscle dystrophies: molecular pathology of DMD gene.
Study of clinical and genetic heterogeneity of limb-girdle muscular dystrophy of autosomal recessive inheritance and autosomal dominant transmission.
Clinical and genetic study of Congenital Myopathies and Congenital Myasthenic Syndromes.
82
PROGRAMMES
Genetic Medicine
