Researchers in the Genetics and Molecular Bases of Kidney Disease Unit are engaged in multidisciplinary projects to characterise, at the molecular and cellular level, the consequences of genetic and autoimmune changes in several rare diseases.
The goals are to expand our understanding of pathogenetic mechanisms, improve diagnosis, and identify targeted therapies.
Activities
• ELISA assays in serum/plasma of factor H, CFH related proteins and anti-CFH antibodies
• Obtaining wild-type and mutated recombinant proteins and their purification from plasma for in vitro functional studies
• Molecular and functional studies on rearrangement products between CFH and CFH-related genes
• Functional studies of complement system activity in the fluid and solid phase with biological samples from patients
• Protein-protein interaction studies
• Assay of ADAMTS13 protease and its inhibitors
• Evaluation of C3 convertase activity
• Assay and characterisation of nephritic factor C3 and nephritic factor C5
