Understanding differential disease manifestations of VHL mutations via the plurality of their molecular functions (P18*)

• Subject Area: General Genetics and Functional Genome Biology
• Term: since 2025
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 431984000

P18 aims to gain a detailed understanding of the molecular functions of VHL mutations that predispose to different VHL-related outcomes. P18 will generate isogenic endogenous missense, nonsense, and microdeletion mutations, as well as different isoforms of VHL in different cellular systems, study the molecular pathways affected by these VHL aberrations using a comprehensive set of complementary in vitro and in vivo readouts, and correlate them with clinical outcomes in the large Freiburg VHL disease registry. The advanced genome editing techniques contributed by P18 will inform targeted screening strategies and therapies for VHL disease and VHL-driven sporadic ccRCC.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1453: Nephrogenetics (NephGen)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Heads: Professor Dr. Sven Diederichs, since 1/2025; Dr. Athina Ganner, since 1/2025