BALDASSARI Sara

Biography

Sara Baldassari is a tenured INSERM researcher (Chargée de recherche, CRCN) within the MOSAIC team at the ICM in Paris since October 2021 and has been the scientific coordinator of the ICM’s iGenSeq platform since January 2025. She obtained a PhD in Biomedical Sciences and Oncology (specializing in Human Genetics) from the University of Turin (Italy) in 2017, followed by a postdoctoral fellowship at the ICM between 2017 and 2021 in the team of Stéphanie Baulac. She earned her Habilitation to Supervise Research (HDR) from Sorbonne University in 2025.

Her research focuses on the genetic basis of epilepsy, particularly forms associated with cortical malformations and somatic mutations.

She is actively involved in mentoring young researchers and coordinating collaborative research projects. She is a co-author of several publications in leading international scientific journals.

Research

Over the past five years at the Institut du Cerveau, Sara Baldassari has focused her research on the pathophysiological mechanisms underlying epileptogenic brain malformations, particularly focal cortical dysplasia type II (FCD2) and MOGHE. She contributed to uncovering the key role of somatic mTOR pathway-activating mutations in FCD2, as well as glycosylation defects due to SLC35A2 mutations in MOGHE.

Her work relies on state-of-the-art techniques such as single-cell genotyping and transcriptomics, spatial transcriptomics, and the development of cellular and animal models. She is currently leading a translational research line aimed at elucidating the cellular mechanisms of mosaic glycosylation defects during brain development, with the goal of improving diagnostic tools and paving the way for novel targeted therapies.

Keywords: brain mosaicism, epilepsy, genetics, mTOR, glycosylation, MOGHE, multi-omics approaches.

1. Baldassari S, Klingler E, Gomez Teijeiro L, Doladilhe M, Raoux C, Roig Puiggros S, Bizzotto S, Sami L, Ribierre T, Aronica E, Adle-Biassette H, Chipaux M, Jabaudon J and Baulac S. Single-cell genotyping and transcriptomic profiling in focal cortical dysplasia. Nat Neurosci. 2025 May;28(5):964-972.
2. Ribierre T, Bacq A, Donneger F, Doladilhe M, Maletic M, Roussel D, Le Roux I, Chassoux F, Devaux B, Adle-Biassette H, Ferrand-Sorbets S, Dorfmüller G, Chipaux M, Baldassari S, Poncer JC, Baulac S. Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy. Nat Neurosci. 2024 Jun;27(6):1125-1136.
3. Checri R, Chipaux M, Ferrand-Sorbets S, Raffo E, Bulteau C, Rosenberg SD, Doladilhe M, Dorfmüller G, Adle-Biassette H, Baldassari S*, Baulac S*. Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup. Brain Commun. 2023 Jun 1;5(3):fcad174
4. Gozzelino L*, Kochlamazashvili G*, Baldassari S*, Mackintosh AI, Licchetta L, Iovino E, Liu YC, Bennett CA, Bennett MF, Damiano JA, Zsurka G, Marconi C, Giangregorio T, Magini P, Kuijpers M, Maritzen T, Norata GD, Baulac S, Canafoglia L, Seri M, Tinuper P, Scheffer IE, Bahlo M, Berkovic SF, Hildebrand MS, Kunz WS, Giordano L, Bisulli F, Martini M, Haucke V, Hirsch E, Pippucci T. Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy. Brain. 2022 145 (7), 2313-2331
5. Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, and Baulac S. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathologica. 2019, Dec;138(6):885-900.