Genetic Diseases

Main lines of research

  • Study of the clinical heterogeneity of genetic autosomal recessive transmission of waist dystrophy and autosomal dominant transmission.
  • Spinal atrophy and SMN genes: 1.- studies of molecular pathology, disease mechanisms and SMN gene expression. 2.- Identification of modifying genes. 3.- study of biomarkers for validation processing in spinal muscular atrophy. 4.- study of the neuromuscular junction in human development.
  • Hereditary breast cancer and BRCA mutations: 1. Identification of mutations and genetic variants. 2. Molecular characterization of Circulating tumor cells (CTCSS) through expression profiles in patients with f breast cancer. 3. Analysis of free circulating tumor DNA (cfDNA) as a predictor of response to the treatment of breast cancer.
  • Pharmacogenetics: adverse reactions to medications.
  • Congenital coagulopathies: Molecular Pathology of haemophilias.
  • Duchenne and Becker muscular dystrophy: molecular pathology of DMD gene.



  • Colorectal and lung cancer treatments.
  • Chronic inflammatory disease treatment.
  • HIV infection treatment.

Muscular Distrophies

  • Post-transcriptional regulation of the dystrophin gene using nonsense-mediated decay analysis in DNA from patients with Duchenne muscular dystrophy.
  • Genes associated with new phenotypic forms of limb girdle muscular dystrophy.
  • Workflow development for the analysis of DMD gene by NGS techniques.

Hereditary Breast/Ovarian Cancer

  • DNA studies to classify DNA variants found in the BRCAs genes as pathogenic or neutral.
  • CTCs as prognostic markers in patients with locally advanced and disseminated breast cancer.
  • Workflow development for the analysis of BRCA1 and BRCA2 genes by NGS techniques.

Hereditary Motor Neurone Diseases

  • Development of neuromuscular junction studies in health and disease.
  • Broadening of the spectrum of motor neuron diseases to include bulbar and spinal muscular atrophy, distal muscular atrophies and amyotrophic lateral sclerosis.

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