Biography
After graduating from the University of Bologna (Italy) in molecular and cellular biology in 2012, I obtained a Ph.D. in human genetics at the University of Turin (Italy) in 2017, with a thesis on the identification of new genes underlying familial and sporadic focal epilepsy by whole exome sequencing.
Soon after, I joined the team of Stéphanie Baulac and Eric Leguern at the Brain Institute as a postdoc, where I first studied the phenotypic and mutational spectrum of epilepsies caused by germ mutations in the genes of the GATOR1 complex.
I am now focusing my research on elucidating the pathological mechanisms underlying paediatric forms of epilepsy caused by developmental brain malformations and somatic mosaicism. I am a review editor of the "Genetic Disorders" section of the journals "Frontiers in Genetics" and "Frontiers in Pediatrics".
Research
My research project focuses on the genetic and biological mechanisms involved in drug-resistant epileptogenic focal brain malformations subject to resection neurosurgery.
My ultimate goal is to pave the way for precision medicine for patients with these conditions, and to expand current knowledge of human corticogenesis, using a translational approach:
- identifying the somatic brain mutations underlying these pathologies by sequencing postoperative brain tissue.
- elucidating the developmental origin of mutated cells and the biological mechanisms affected by unicellular approaches
- understanding the mechanisms involved in epileptogenesis and developmental malformations in mouse and brain organoid models.
Interests: brain mosaicism, epilepsy, genetics, mTOR mechanism, glycosylation pathway.