Developed skills and lines of research

Monica Averna received her BSc in Biological Sciences from the University of Genoa in 1993 and her PhD in Biochemistry from the Consortium Sites University of Genoa and Pavia in 1999. Since 2016, she has been a Research Fellow at the University of Genoa. One of her goals as an FFC Ricerca project partner was to develop a reproducible and accurate method that can assess CFTR channel function in leukocytes and to test it in a clinical case series suitable for the purpose. The test should be able to measure the function of CFTR in subjects possessing mutations of uncertain pathogenic significance; also, in those taking CFTR enhancing or correcting drugs, to assess the efficacy of therapy at the cellular level. The test is based on the ability of a particular protein, which, produced by genetic engineering techniques and introduced into monocytes, is able to emit fluorescence and change light emission according to the concentration of iodine in solution. Iodine can be transported efficiently by the CFTR channel like chlorine ions: if the CFTR channel is functioning efficiently it is therefore capable of transporting iodine. The more iodine is transported, the more light the protein emits (which can be measured through images indicating CFTR functioning).

Projects funded by FFC Ricerca as Principal Investigator or as Research Manager

FFC#12/2019
Proteomic approach for the identification of new leukocytes biomarkers directly related to a restored CFTR activity following ex vivo treatment with VX-770

Projects financed by FFC Ricerca

FFC#29/2015
Testing CFTR repair in cystic fibrosis patients carrying nonsense and channel gating mutations

FFC#6/2013
Establishment of a semi-automated evaluation of CFTR function in blood cells for clinical applications