Presentation
Sophie THOMAS, PhD, HDR, Principal Investigator
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
ResearcherID: https://publons.com/researcher/2128808/sophie-thomas/
Resources & publications
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Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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Journal (source)PLoS ONE
Prevalence and risk factors for latent tuberculosis infection among healthcar...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Park...
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Journal (source)J. Exp. Med.
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients i...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Blacklisting variants common in private cohorts but not in public databases o...
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Journal (source)Sci Immunol
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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Journal (source)N. Engl. J. Med.
HCV-Associated Liver Fibrosis and HSD17B13.
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Journal (source)PLoS Genet.
Deciphering the genetic control of gene expression following Mycobacterium le...
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Journal (source)Antimicrob. Agents Chemother.
Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male...
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Journal (source)N. Engl. J. Med.
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
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Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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Journal (source)J Exp Med
Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever...
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Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
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Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...