Assessment of biological effects of components of food and food ingredients: cytoprotection and/or cytotoxicity, markers of oxidative stress, inflammation and apoptosis, using cell cultures.
Immortalisation of monocytes and hepatocytes from patients with severe AATD (ZZ). Cell cultures derived from nasal ciliated epithelium by using the Air-Liquid technique (ALI).
Genome editing and repair by using the CRISPR/Cas9 system and non-viral gene therapy techniques of the Z mutation of the SERPINA1 gene that encodes for the alpha-1 antitrypsin gene in monocytes and hepatocytes of patients with alpha-1 antitrypsin deficiency.
RRDs are very complex and are associated with alterations in multiple metabolic pathways. An important aspect for the RRD diagnosis, prognosis and treatment is to identify the aberrant changes that may occur in these metabolic pathways and to elucidate their connection with the disease. In this regard, we will use high performance trials such as microarrays and mass sequencing for the analysis of biological samples from patients with alpha-1 antitrypsin deficiency and primary ciliary dyskinesia syndrome in order to identify possible metabolic pathways involved in the development of these diseases, and with the aim, in turn, of identifying new diagnostic and prognostic biomarkers (including treatment response) and of identifying new therapeutic targets.
Study by means of Flow Cytometry techniques of REDOX biology in patients with Alpha-1 Antitrypsin Deficiency and Primary Ciliary Dyskinesia Syndrome.
Genetic and cellular study of developmental processes in Drosophila, such as embryonic dorsal closure and the establishment of epithelial planar polarity, used as models of processes relevant to human health such as wound healing or cell migration processes.