Research project on rare endolysosomal disorders

Cystinosis - a prototype for rare inborn errors of metabolism known as lysosomal storage disorders (LSD) - causes dysfunction of the kidney proximal tubule (PT) and currently lacks curative treatments.

In this project, we combine knowledge target−driven and systems biology−based drug repurposing strategies with phenotypic screens in disease–relevant model organisms and cellular systems to catalyze the development of “first−in−class” therapeutics for cystinosis and other rare inherited disorders related to endolysosome dysfunction. These studies will accelerate the translation of novel therapies for rare diseases towards clinic.