The project focuses on GNB1-associated encephalopathy, a severe ultra-rare neurological disorder caused by mutations affecting G protein signaling pathways. Patients suffer from developmental delay, epilepsy, and other complex symptoms, while effective treatment options are currently lacking.
By combining advanced molecular simulations with experimental and clinical collaboration, the project aims to uncover mutation-specific disease mechanisms and identify targeted treatment strategies through drug repurposing. This integrative approach enables the development of mechanism-guided therapeutic hypotheses tailored to individual patients.
The project is carried out in collaboration with Nicole Amberg (Medical University of Vienna) and Nathan Dascal (Tel Aviv University).