PhD student

Education and training:
October 2023 - PhD student in “Translational and Precision Medicine” course, XXXIX cycle, University of Pavia. Prof. Giorgio Group. Title of the doctoral project “Pathogenic mechanisms and therapeutic strategies in Autosomal Dominant adult-onset LeukoDystrophy (ADLD)”.

October 2021 – October 2023
Master's Degree in “Molecular Biology and Genetics” from the University of Pavia; grade: 110/110 and Honours. Thesis title: “Hi-C technology allows deciphering pathomechanisms in autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)”. Speaker: Prof. Elisa Giorgio.

October 2018 – November 2021 Bachelor's degree in “Biological Sciences” from the University of Pavia;
voting: 110/110 and Honours. Thesis title: “Role of CENP-B protein in chromosome segregation”. Speaker: Prof. Elena Raimondi.

Research activities. My research activity is focused on medical genetics. I mainly deal with identifying non-canonical variants associated with genetic diseases, such as non-coding regulatory variants. In this area I have specialized in the identification of variants associated with alteration of enhancers, insulators and alterations of the 3D structure of the human genome using innovative technologies, such as Hi-C. I actively participated in the development of Hi-C technology at Prof. Giorgio's laboratory. Since then I have analyzed with this technology more than 40 patients suffering from various genetic diseases such as leukodystrophies (ADLD), Ring14 syndrome, neurological syndromes
associated with inversions at the SORD locus and structural variants at the SHOX locus.

Produzione Scientifica. Poster di un congresso in cui viene presentato l'autore:
- “Le analisi Hi-C e RNA-seq sugli astrociti derivati da hiPSC consentono di decifrare ulteriormente i patomeccanismi della leucodistrofia demielinizzante autosomica dominante ad esordio nell'adulto (ADLD)” Conferenza ESHG 2025, Milano 24-27 maggio 2025.
- “La tecnologia HiC permette di analizzare varianti strutturali” Incontro dello Spoke 1 del progetto PNRR-MNESYS, Parma 8 aprile 2024.

Riconoscimenti. Diploma di Collegio. Collegio Nuovo-Fondazione Sandra e Enea Mattei, Pavia Collegio universitario di merito accreditato dal MUR