Developed skills and lines of research
Renata Bocciardi graduated in Biological Sciences in 1992 from the University of Pisa. In 1997, she obtained a Ph.D. in Human Genetics from the University of Turin. After conducting research in France at INSERM Unit 364 (Biology and Cellular Immunology), she returned to Italy to continue her work, earning a specialization diploma in Medical Genetics from the University of Genoa. Since 2010, she has been a permanent researcher at the Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal-Infant Sciences (DINOGMI) at the University of Genoa. Since 2011, she has collaborated with the IRCCS Istituto “Giannina Gaslini”, where she is responsible for diagnostic genetic tests.
Her research activities, carried out at the Genetics Unit of the “G. Gaslini” Institute, have consistently focused on the basic pathogenic mechanisms of genetic disorders, particularly the regulation of gene expression at the transcriptional and post-transcriptional levels, and the molecular mechanisms involved, which are considered potential targets for innovative therapeutic approaches.
Recently, she has actively collaborated in the field of cystic fibrosis studying the molecular and expression profiles of orphan CFTR variants, transcript characterization, splicing studies, and the analysis of complex alleles of the CFTR gene, along with their roles in CF pathogenesis and response to modulators. She is author and co-author of 70 papers in indexed international journals.
Projects funded by FFC Ricerca as Principal Investigator or as Research Manager
FFC#3/2023
Understanding the mechanisms behind the variable efficacy of CFTR modulators on the N1303K mutation on human primary nasal epithelial cells
Projects financed by FFC Ricerca as a partner
FFC#10/2021
Theratyping orphan mutations in Italian cystic fibrosis patients: meeting unmet needs
Publications from FFC Research projects
Terlizzi V, Pesce E, Capurro V, Tomati V, Lena M, Pastorino C, Bocciardi R, Zara F, Centrone C, Taccetti G, Castellani C, Pedemonte N. Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators. Int J Mol Sci. 2023 Mar 31;24(7):6576. doi: 10.3390/ijms24076576.
Tomati V, Costa S, Capurro V, Pesce E, Pastorino C, Lena M, Sondo E, Di Duca M, Cresta F, Cristadoro S, Zara F, Galietta LJV, Bocciardi R, Castellani C, Lucanto MC, Pedemonte N. Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation’s stability and gating defects are dependent on cell background. J Cyst Fibros. 2023 May;22(3):525-537. doi: 10.1016/j.jcf.2022.12.005.
Sondo E, Cresta F, Pastorino C, Tomati V, Capurro V, Pesce E, Lena M, Iacomino M, Baffico AM, Coviello D, Bandiera T, Zara F, Galietta LJV, Bocciardi R, Castellani C, Pedemonte N. The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs. Int J Mol Sci. 2022 Mar 15;23(6):3175. doi: 10.3390/ijms23063175.