Presentation
Sara Bizzotto
Sara obtained a PhD in Genetics and Neurodevelopment from Sorbonne University (Paris, France) in 2016. She performed her PhD in the lab 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 the mouse. Her PhD work contributed to showing that mutations in the EML1 gene cause a rare and severe malformation of the cerebral cortex, and the role of EML1 in neural progenitors.
In 2016, Sara joined the lab of Prof. Christopher A. WALSH at Harvard Medical School/Boston Children’s Hospital (USA) as a postdoctoral fellow, where she specialized in neurogenomics and especially in somatic mosaicism in the human brain. Her postdoctoral work showed that somatic mosaic variants detected in post-mortem human tissue can be used as reliable natural markers of cell lineages, and to reveal clonal dynamics during development. In the Walsh lab, she also uncovered cell-type specific mechanisms of somatic mutation in the human brain by applying whole-genome sequencing to single neurons and oligodendrocytes. In addition, she used single-cell transcriptomics and genotyping applied to post-surgical brain biopsies to study somatic mosaicism in the context of mosaic developmental brain disorders.
In 2021 Sara obtained a Horizon2020 MSCA postdoctoral reintegration fellowship to come back to France, and joined the lab of Dr. Stéphanie BAULAC at Paris Brain Institute (ICM). There, she continued her work on somatic mosaicism in the context of cortical malformations using both human tissue and in vitro 3D organoid models.
Sara obtained a permanent position as Principal Investigator (CRCN) in Neuroscience at Inserm in 2023. In the same year, she obtained an ERC Starting Grant to study somatic mosaicism and cell phylogenies in human neurodevelopment and neurodevelopmental disorders. In 2024, she was awarded the prestigious Federation of European Neuroscience Societies (FENS) and European Journal of Neuroscience (EJN) Young Investigator Prize.
Sara joined Imagine Institute to establish her lab in January 2025.
Resources & publications
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonom...
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Journal (source)Science
Landmarks of human embryonic development inscribed in somatic mutations
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Journal (source)Cell
Contrasting somatic mutation patterns in aging human neurons and oligodendroc...
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Journal (source)Nature Reviews Neuroscience
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatri...
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Journal (source)Frontiers in Neuroscience
The human brain through the lens of somatic mosaicism
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Journal (source)Lineage Tracing. Methods in Molecular Biology, vol 2886. Springer Nature. Humana, New York, NY
Backtracking Cell Phylogenies in the Human Brain with Somatic Mosaic Variants