Discovery and characterization of genes with cell-type and compartment-specific functions in the kidney and their role in disease (P16)

• Subject Area: Human Genetics ; Nephrology
• Term: since 2021
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 431984000

P16 will focus on genetic studies of the translated genome to investigate cell type-specific networks around causative genes for kidney diseases. The project entails hypothesis-driven, genome-wide studies of uromodulin levels to gain insights into the synthesis, processing, and release of this protein, encoded by a major CKD risk gene. P16 will study how members of the uromodulin pathway relate to CKD risk and other essential functions of the nephron’s thick ascending limb, such as blood pressure regulation. P16 will further extend their genome-wide studies to >3,000 proteins quantified from human urine, in order to systematically identify fingerprints of genes underlying genetic kidney diseases on the urinary proteome (e.g., how mutations in CUBN impair renal handling of filtered proteins).

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1453: Nephrogenetics (NephGen)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Head: Professorin Dr. Anna Köttgen