Ricerc@Sapienza

My laboratory investigates RNA molecules, from their fundamental biology to their therapeutic potential, within the context of neurodevelopmental and neuromuscular disorders. We mainly focus on non-coding RNAs and on unveil their mechanism of action in regulating gene expression.
A key area of our research involves investigating how the non-coding transcriptome contributes to neurodegeneration, particularly in Amyotrophic Lateral Sclerosis (ALS) associated with mutations in the FUS gene. By using patient-derived iPSCs, we determined how FUS mutations alter the biogenesis of specific miRNAs and long non-coding RNAs (lncRNAs and circRNAs) in in vitro derived motor neurons .
A new field of research in the laboratory relates to an ultra rare neurodevelopmental disorder characterized by regression, abnormal movements, loss of speech, and Seizures (NEDAMSS) and caused by mutations in the IRF2BPL gene. Focusing on non sense mutation and leveraging an active collaboration with Italian physicians and international laboratories we are currently generating patient-derived iPSCs to model the disease. We aim to develop and evaluate the safety and efficiency of a novel therapeutic strategy using engineered suppressor tRNAs (sup-tRNA) to restore the full-length IRF2BPL synthesis.