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Sophie Thomas and her group work on rare developmental diseases grouped under the term ciliopathies and the consequence of abnormalities in primary cilium biogenesis or function secondary to mutations in genes encoding centrosomal or ciliary proteins. In particular, her research work is focused on the role of the primary cilium in the development of the central nervous system (CNS).
Ciliopathies can lead to CNS malformations (neural tube defect, agenesis of the corpus callosum), cerebellar dysplasia, microcephaly, or cognitive and/or behavioral disorders without any neuroanatomical basis. All types of neocortical progenitors and neurons have a primary cilium that regulates the mechanisms associated with their expansion, fate, migration and maturation.
Sophie Thomas' group has developed a multifaced approach including human genetics, neurohistopathology and 2D and 3D cell-based models of neocortical development (i.e. neural rosettes and cerebral organoids) generated from patient IPS cells (see Figure and movies below), in order to further dismantle the molecular and cellular basis of ciliopathies and to dissect the role of the primary cilium during CNS development, from neural tube patterning to corticogenesis.
ORCID ID: https://orcid.org/0000-0002-8569-3277