Target identification across the allele frequency spectrum: from complex to monogenic kidney disease (P15)

• Subject Area: Human Genetics ; Epidemiology and Medical Biometry/Statistics ; Nephrology
• Term: since 2021
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 431984000

P15 performs comprehensive genetic studies of large-scale population-based sequencing studies of >1 million individuals for yet unknown risk variants and genes for albuminuria, and of cohorts of >5,000 CKD patients with deep phenotyping, prospective data collection, and molecular profiling. They aim to uncover genes not yet linked to kidney damage, and to comprehensively scrutinize the frequency spectrum of disease-predisposing alleles. Diagnostic variants in recently discovered monogenic kidney disease genes detected from exome sequencing of >5,000 CKD patients will be studied in relation to CKD progression over 10 years, to differences in patient biochemical and molecular profiles, and with respect to commonalities and differences in extra-renal manifestations.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1453: Nephrogenetics (NephGen)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Heads: Privatdozentin Dr. Ulla T. Schultheiss, since 1/2025; Privatdozent Dr. Matthias Wuttke