This research line focuses on establishing human neuronal models for Congenital Central Hypoventilation Syndrome (CCHS), and other rare diseases, using dental pulp stem cells (DPSC/SHED) from patients and controls. DPSC are differentiated into neurons that recapitulate key aspects of mechano-pathology in a patient-specific context. These models are characterised by immunofluorescence, flow cytometry and gene-expression profiling to confirm neuronal identity and identify disease-associated alterations. Compared with immortalised lines, DPSC-derived neurons provide a more physiologically relevant system to study neurodevelopmental defects. The platform supports mechanistic studies and preclinical testing of candidate therapeutics.

Isabella Ceccherini, Lawrence T Reiter