Previous page Sara BALDASSARI PI - CRCN INSERM Team "Genetics and physiopathology of epilepsy" []


I graduated cum laude from the University of Bologna (Italy) in Molecular and Cellular Biology in 2012, and obtained a PhD in Human Genetics from 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.

Shortly after, I joined the team of Stéphanie Baulac and Eric Leguern at the ICM as a postdoc, where I first studied the phenotypic and mutational spectrum of epilepsies caused by germline mutations in the genes of the GATOR1 complex.

I now focus my research on elucidating the pathomechanisms underlying pediatric forms of epilepsy caused by developmental brain malformations and somatic mosaicism. I am a Review Editor for the “Genetic Disorders” section of “Frontiers in Genetics” and “Frontiers in Pediatrics” journals.

Research work

My research project focuses on the genetic and biological mechanisms implicated in epileptogenic drug-resistant focal brain malformation, subjected to resective neurosurgery.

My final goal is to pave the way towards a precision medicine for patients with these disorders, and broaden the current knowledge on human corticogenesis, using a translational approach:

- by identifying brain somatic mutations underlying these pathologies by sequencing the postoperative brain tissues

- by elucidating the developmental origin of mutated cells and the affected biological mechanisms using single cell approaches

- by understanding the mechanisms involved in epileptogenesis and developmental malformations in mice models and brain organoids

  Interests : Brain mosaicism, epilepsy, genetics, mTOR pathway, glycosylation pathway

curriculum vitae