Stefania Farina studied at Second University of Naples in Caserta where in 2015 she graduated, cum laude, with a master’s degree in Biology (Bio-molecular curriculum). Within the master thesis project, Stefania started to collaborate with Thyroid Laboratory of Erasmus Medical Center in Rotterdam. Her research project, completed on September 2017, aimed to investigate thyroid hormone transport in human. Within the IUSS, Stefania is appointed as PhD student.
Stefania studies DNA damages response (DDR), a coordinated signalling procedure extremely important for DNA repair and prevention of cells premature death in neuro-degerneration. It has been shown that motor-neurons of patients affected by Amyotrophic Lateral Sclerosis (ALS) may fail to efficiently repair these damages which progressively accumulate in the cell thus leading to neuro-degeneration. Recently, a new class of small RNAs has been discovered, named DDRNAs, needed for DDR activation and DNA damage repair. To produce DDRNAs, cells utilise two proteins, DROSHA and DICER. Importantly, some mutations that predispose to ALS occur in genes encoding for and RNA-binding protein fused in sarcoma (FUS) that stimulate the functions of DROSHA and DICER. Starting from these findings Stefania and the entire research group, aim to demonstrate that ALS-associated neuro-degeneration is caused by defects in DDR signalling and DNA repair due to an inefficient production of DDRNAs. By uncovering a novel molecular mechanism behind DNA damage accumulation in ALS, this project aims to elucidate the role of FUS in DDRNA synthesis and/or function and if its loss of function, in ALS patients, results in DDRNA activity defect.