
+39 3341733556 |
| Pavia (Lombardia) Italy |
Research fellow
Università degli Studi di PaviaI am a post-doc research fellow at the Department of Molecular Medicine, University of Pavia, where I have been working since February 2023. Prior to this date, I worked for two years as a postdoctoral researcher at IRCCS Fondazione Mondino, also under the guidance of Professor Valente. I hold a bachelor’s degree in biotechnology (2014) and a master’s degree in medical biotechnology (2016), both from the University of Bologna. In June 2021, I achieved a PhD in Translational Medicine and in January 2025, I achieved a non-medical residency in Human Genetics, both at the Department of Molecular Medicine, University of Pavia, under the guidance of Prof. Valente. My research activity focused on discovering new genes related to neurodevelopmental diseases, not previously described, and demonstrating the connection between them, through specific functional studies. In addition, I am also involved in projects aimed at characterizing the genetic basis of Joubert syndrome, seeking to define the involvement of the various causative genes in the functioning of the primary cilium and, consequently, in the onset of the disease. Both lines of research are based on the use of patient-derived cell lines, specifically fibroblasts reprogrammed into stem cells (iPSCs) and subsequently differentiated (both 2D and 3D) into neuronal lineage. All together, these projects will improve the knowledge at the basis of some genetic diseases and will improve the recurrent risk and prognosis for the families.
Last degree achieved
Doctorate
Pavia - Università degli Studi di Pavia
Area 06 - Scienze mediche
Applicazione di tecniche di sequenziamento di nuova generazione (NGS) per identificare nuovi geni delle atassie congenite (CA) e migliorare i correlati gene-fenotipo in oltre 200 pazienti con CA non caratterizzati. Ciò sarà perseguito attraverso l'ottimizzazione di pannelli basati su NGS per il sequenziamento simultaneo di geni CA noti e il sequenziamento dell'intero esoma in pazienti selezionati negativi all'analisi del pannello e studi funzionali in modelli cellulari (principalmente pazienti’ fibroblasti) per confermare la patogenicità delle varianti identificate.


