Sophie Thomas

We are interested in ciliopathies and identified novel causal genes associated to variable ciliary biogenesis or trafficking defects and consistent altered SHH signaling. Given the emerging links between primary cilia and neocortical progenitor expansion and fate determination, we focus on cilia function during neocortical development by generating dorsal forebrain organoids from IPSCs derived from ciliopathy and microcephaly cases harboring centrosomal gene mutations.