Principal Investigator: Prof Pierre Magistretti
Poster Presenter: Fathia Ben-Rached
Lab:
This study focuses on a ten-year-old Saudi patient with epileptic encephalopathy carrying a unique mutation in the GLP1R gene. This patient carries a rare homozygous splice site variant in GLP1R and exhibits profound cognitive delay and epileptic episodes. However, the link between the identified mutation and physiopathology is still unknown. The molecular and cellular mechanisms responsible for the disease still need further investigation. The study aims to develop an in vitro 3D brain model in culture derived from the patient’s iPSCs for disease modeling. The mature brain organoids originating from these iPSCs have spontaneously formed external cysts filled with liquid from day 28 of culture, resembling the previously documented Choroid-Plexus-CSF organoids. Ongoing investigations are dedicated to the comprehensive analysis and characterization of these organoids, including the content of the formed cysts.