SSD BIO/12 – Clinical biochemistry and molecular biology
Research interest
  • Mutations, expression and methylation patterns analysis of candidate genes (BDNF, NTRK2, HR2, Clock, ADH4, TRHDE, NRXN3, …) involved in multifactorial disorders (suicidal behavior, schizophrenia, primary headache, ..) to identify specific genetic or epigenetic markers correlated with such disorders.
  • Molecular analysis of genes involved in the onset of hereditary diseases with high social impact (Haemophilia, Cystic Fibrosis, …) to identify causing-disease mutations or influencing-clinical expression mutations. Transcriptional and post-transcriptional analysis of CFTR (Cystic Fibrosis Transmembrane conductance Regulator) gene for the functional characterization of new mutations in coding and non-coding regions (promoter, 3’UTR-miRNA) with diagnostic and therapeutic approach purpose.
  • Butyrate regulating effects on pro-inflammatory pathways in intestinal epithelial cells to identify target genes encoding proteins whose expression could be modulated by butyrate.

Suicidal behaviour, schizophrenia, BDNF, NTRK2, cluster headache, genetic or epigenetic markers, espression, methylation, Haemophilia, F8 gene, Cystic Fibrosis, CFTR gene, molecular analysis, causative mutations, coding and non-coding (5’-UTR, 3’UTR) regions, miRNA, butyrate, inflammation, membrane carrier, intestinal epithelial cells.