Sara Bizzotto

Somatic mosaicism in neurodevelopment and disease

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28.01.2025

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Sara completed her PhD in Genetics and Neurodevelopment at Sorbonne University in 2016. She completed her PhD in the laboratory of Dr. Fiona FRANCIS at Institut du Fer à Moulin, where she studied the development of the mammalian cerebral cortex and the pathophysiological mechanisms of cortical malformations in mice. After a postdoctoral fellowship in the laboratory of Prof. Christopher A. WALSH at Harvard Medical School/Boston Children's Hospital (USA), followed by a Horizon2020 MSCA postdoctoral reintegration fellowship to join the laboratory of Dr. Stéphanie BAULAC at Institut du Cerveau (ICM) in Paris, Sara joined Institut Imagine to establish her group in January 2025.

The human central nervous system (CNS) is a genetic mosaic that contains more than 100 billion genomes. This is the result of the constant life-long accumulation of somatic DNA variants in each cell. Studying this huge genomic diversity is key in order to obtain insights into development, aging and brain pathology. Our lab studies somatic mosaicism with the double objective of 1) understanding normal and pathological neurodevelopment and 2) exploring the role of somatic mosaicism in neurodevelopmental disorders. More precisely, we explore the cellular processes of human neurodevelopment by using somatic mosaicism as a tool to backtrack cell lineages and map the origin of the cells that make up the CNS, and how they distribute during normal and pathological development. Furthermore, we work in close collaboration with clinicians at the Necker children’s hospital and investigate the role of pathogenic somatic variants in neurodevelopmental disorders with the objective of improving genetic diagnosis and finding better treatments. To reach these objectives, our lab applies state-of-the-art DNA-sequencing technologies, including single-cell sequencing, as well as single-cell (multi)omics, computational biology and mathematical modeling.

Keywords:

Neurogenomics, Somatic mosaicism, Human neurodevelopment, Cell lineages, Neurodevelopmental disorders