Renoprotection by discriminating favorable from unfavorable genetic backgrounds in polycystic kidney disease (A09*)

• Subject Area: Nephrology ; Human Genetics
• Term: Funded in 2023
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 394046635

Autosomal-dominant polycystic kidney disease (ADPKD) is the commonest genetic disorder causing end-stage kidney failure between ages 30-80 years. While current genotype-phenotype correlations poorly explain variability, we aim to identify genetic traits as early markers of prognostication to warrant optimal renoprotection before cystic kidney enlargement. To identify protective factors, we will analyze atypically mild cases for new PKD-disease genes, explore generic and disease-specific germline modifiers, and will determine differential transcriptomic and methylomic profiles. Functional candidate gene validation will take place by induced pluripotent stem cell-derived kidney organoids.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1365: Renoprotection
• Applicant Institution: shared FU Berlin and HU Berlin through:; Charité - Universitätsmedizin Berlin
• Project Heads: Professor Dr. Jan Halbritter; Ria Anne-Rose Schönauer, Ph.D.