The project is untitled "Understanding the physiopathological mechanisms underlying the cerebral malformations and intellectual deficiency associated to RNU4ATAC-related syndromes". Using induced pluripotent stem cells (iPSC) models that are differentiated in neuronal progenitors and neurons, or brain organoids, GENDEV team aims at deciphering the major genes misexpressed upon RNU4ATAC mutations during neurodevelopment.
The grant of about 40k€ over 2 years allows the generation and neuronal differentiation of iPSC issued from patients' cells.