Network of Early Onset Cystic Kidney Disease (NEOCYST)
Hereditary cystic kidney diseases are among the most important causes of chronic renal failure in childhood. Main difficulties in dealing with cystic kidney disease are the high phenotype and genetic variability (almost 100 known genes) and a poor renal outcome. The primary objective of the multidisciplinary network NEOCYST is to improve the life of patients and their families affected by hereditary cystic kidney diseases by increasing our knowledge of the epidemiology, genetics, molecular pathophysiology and long-term outcomes of pediatric cystic kidney disease with and without extrarenal manifestations.
In order to reach these goals, four different nation-wide clinical registries dealing with cystic kidney diseases will be integrated and matched to each other on a new common platform. This will provide the clinical information and the molecular genetics required for valid genotype-phenotype correlation analysis and the search for novel disease genes. At the same time the platform will serve as a scientific basis for multiple translational projects covering the structure of cilia, intracellular signalling and other common pathophysiological mechanisms. By applying proteomics-techniques to patients’ urine samples, we will further try to identify specific biomarkers that can help to assess the individual course of affected patients. Above this, cooperation with the Hannover Unified Biobank ensures a standardised and safe storage of precious biological specimen and facilitates future scientific work on this field. Finally the development of standard of care guidelines is supposed to standardise the clinical work-up on cystic kidney diseases and thereby improve the patients’ care.
- Coordination center of the NEOCYST consortium (Prof. Martin Konrad, University of Münster)
- Clinical characterization by the NEOCYST online registry: (Dr. Jens König, PD. Max Liebau, Dr., PD. Stefanie Weber, Dr. Metin Cetiner, Prof. Frank Ückert, Prof. Franz Schäfer; University of Münster, University of Cologne, University of Duisburg-Essen, Heidelberg University)
- Molecular genetics (Prof. Carsten Bergmann Bioscientia Health Care Group, Ingelheim)
- Standards of care-guidelines (Prof. Franz Schaefer, Dr. Charlotte Gimpel; Heidelberg University; University of Freiburg))
- Molecular biology in cystic nephropathies (PD. Max Liebau, Prof. Heymut Omran, Prof. Dieter Haffner, Prof. Carsten Bergmann, University of Cologne, University of Münster, Hannover Medical School , University of Freiburg)
- Urinomics (Prof. Lars Pape, Dr. Jens Drube; Hannover Medical School)
- Biobank coordination (Prof. Thomas Illig, Hannover Medical School)
Prof. Dr. Martin Konrad
University Children‘s Hospital Münster
Fax: +49- 251-9813336
16. February 2017 (NEOCYST)
Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease
Front Pediatr. 2017 Feb 16;5:18. doi: 10.3389/fped.2017.00018. eCollection 2017.
Ebner K, Schaefer F, Liebau MC; ARegPKD Consortium