Hereditary lysosomal storage and metabolic diseases in the kidney (P19*)

• Subject Area: Nephrology
• Term: since 2025
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 431984000

P19 proposes detailed investigations of Fabry disease (FD), a monogenic lysosomal storage disorder affecting the kidney. Using a combination of organoids grown from patient-derived primary cells, several in vitro models to investigate defective lysosomal and mitochondrial signaling networks, as well as a recently established rat model, they will test the hypothesis that deleterious effects of FD extend beyond the lysosome to impaired metabolic functions involving mitochondria, and that this may represent a common theme shared with other monogenic metabolic diseases of the kidney such as methylmalonic acidemia.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1453: Nephrogenetics (NephGen)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Heads: Professor Dr. Tobias B. Huber, since 1/2025; Dr. Anke Schumann, since 1/2025