Research for Rare - Research for rare diseases

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.

Coordinating investigator:
Prof. Dr. Martin Konrad
University Children‘s Hospital Münster
General Pediatrics
Pediatric Nephrologie
Waldeyerstrasse 22
48149 Münster
Tel: +49-251-9813331
Fax: +49- 251-9813336