My current research focuses on modeling neuromuscular diseases (NMDs), such as SMA, DMD, DM, FSHD, and Lama2-CMD, using patients' induced pluripotent stem cells (hiPSC) to enhance our understanding of the genetic and cellular mechanisms behind these debilitating skeletal muscle disorders.

A key project, funded by the European Commission through a MSCA Reintegration fellowship, aims to identify novel disease-causing genes in patients facing diagnostic deadlocks and to explore the mechanisms behind previously undiagnosed Muscular Dystrophies (UMDs) to guide their diagnosis and classification, potentially leading to new therapies.

We collaborate closely with hospital services and have compiled extensive collections of biological samples for experimental use. By integrating advanced and functional technologies, such as transcriptomics, multi-omics,GS, calcium imaging, and MEA, we can pinpoint affected genes, biological pathways, and functional properties in undiagnosedromuscular diseases, paving the way for innovative therapeutic strategies.

Additionally, we are investigating the pathomechanisms of Laminin a2 deficiency related muscular dystrophy (LAMA2-RD), a common congenital muscular dystrophy with no existing cure. Overall,PSC-based models provide unique opportunities to explore various aspects of genetic NMDs, identify new genes, validate pathogenic variants, and define the early stages of muscle wasting, while also supporting the development of personalized treatment options for these conditions.