Research collaboration

Several ongoing efforts are currently underway.

From the basic science perspective, we have developed patient-derived induced pluripotent stem cells (iPSC) and now initiated differentiation into neuronal progenitors. Through different studies including maturation and molecular biology techniques, proteomics, and electrophysiological recordings, we aim to get further insight into the underlying pathophysiology of the disease and to identify potential targets for future treatments.

From the clinical side, we are currently performing additional skeletal images and laboratories to optimize patient management. Furthermore, we keep the international clinical registry with over 250 individuals enrolled from around the world and a comprehensive mutation database.