Somatic mosaicism in neurodevelopment and disease

Institut des Maladies Génétiques IMAGINE



Axe 1 : Génomique, cellules humaines, reprogrammation et neuro-organoïdes

Axe 3 : Réseaux neuronaux, modélisation et intelligence artificielle

Understanding normal and pathological neurodevelopment and 2) exploring the role of somatic mosaicism in neurodevelopmental disorders.

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.

Address :
24, Bd de Montparnasse - 75015 Paris

Team leader :
Sara Bizzotto
Name of co-team leader :

Administrative Contact Name :
LHOCINE Nouara

Website : Cliquez ici
Key words : #Neurogénomique, #mosaïcisme somatique, #neurodéveloppement humain, #lignées cellulaires, #troubles du développement neurologique #Neurogenomics, #Somatic mosaicism, #Human neurodevelopment, #Cell lineages, #Neurodevelopmental disorders
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