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 started studying 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 contributed to reveal 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.