Project Summary
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).
