The NEOCYST project 5 is dedicated to translational research on cell biological questions. Within this project biosamples of genotyped and deeply phenotyped patients will be used to study molecular mechanism that are relevant for progression of cystic kidney diseases and that may explain the partial phenotypical overlap between different entities of cystic kidney diseases.

Cell programming and signaling cascades

University of Cologne

The project in Cologne pays special attention to ARPKD and nephronophthisis, the most common genetic cause of end stage renal disease in childhood and adolescence. Using state-of-the-art techniques of cell (re)programming and genomic engineering we aim for novel insights into dysregulated signaling cascades in cystic kidney disease and hope to fill up lacunae in the understanding of the cellular pathogenesis of cystic kidney diseases. Ultimately,this might contribute to the identification of potential novel therapeutic approaches.

Cell adhesion and epithelial morphogenesis

Hannover Medical School

In Hannover, the project focuses on altered epithelial cell characteristics that lead to defective homeostasis of tubular and collecting duct epithelia and that cause or deteriorate renal cyst formation. Altered cell properties are being studied ex vivo using urine-derived renal epithelial cells (UREC) and correlated to quantitative parameters of cell adhesion and epithelial morphogenesis. The study uses ARPKD as a model to determine relevant parameters, and subsequently, will include all cystic kidney diseases studied by the NEOCYST consortium. Assessment of quantitative cell characteristics based on state-of-the-art cell biological tools is expected to reveal disease-specific alterations of cell function. Correction of epithelial cell defects will be addressed in ex vivo analyses of UREC from patients and may ultimately allow identification of potential novel therapeutic approaches for entities of cystic kidney disease and for individualized treatment.

Ciliary structure and function

Medical University of Münster