Deciphering the mechanistic role of formin DAAM2 in genetic podocytopathies (P20*)

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

P20 will study the formin-mediated pathogenesis of genetic kidney disease, based on the observation that mutations in the formin-encoding genes DAAM2 and INF2 can cause hereditary podocytopathies, and that heterozygous variants can cause a human androgen insensitivity syndrome where DAAM2 promotes nuclear actin assembly for steroid hormone receptor-mediated transcription. By leveraging their complementary expertise and tools, they will combine studies of the Drosophila nephrocyte model and nuclear actin dynamics with advanced imaging technologies to understand the role of nuclear formin-mediated actin assembly in the podocyte and its disturbances upon introduction of patient-specific mutations.

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