The brain mosaic: insights into development and disease
Sara Bizzotto
Chef d’équipe Somatic mosaicism in neurodevelopment and disease, Institut Imagine, Paris

Résumé
The human brain is a genetic mosaic containing billions of genomes. This is the result of the constant life-long accumulation of somatic DNA variants. The study of this huge genomic diversity has given unique insights into brain development and pathology. During the talk, I will introduce some of the technologies and approaches that allow to study somatic mosaicism with increasing sensitivity and precision, and what we know about the mechanisms of somatic mutation in the human brain. I will show how somatic mosaicism can be leveraged to perform lineage tracing directly in human tissue, and how our lab is using this approach to study cell phylogenies, clonal dynamics and cell type generation in the human brain. Finally, I will talk about mosaic cortical malformations associated with pharmaco-resistant epilepsy and some of the pathophysiological mechanisms we uncovered by studying both post-surgical tissue and patient-derived cortical organoids.

Invitée par Jean-Bernard Manent
Lundi 9 février 2026 à 11h – Salle de conférence de l’Inmed