Project Title: |
Network for Early Onset Cystic Kidney Diseases (NEOCYST) |
Project Type: |
Translational research |
Disease group(s): |
Tubulopathies, AD structural kidney disorders, Congenital malformations & ciliopathies |
Project Summary: |
NEOCYST is a multidisciplinary network of clinical, genetic and basic scientists dedicated to improve the lives of patients with hereditary cystic kidney diseases. Despite recent progress in the molecular understanding, genetic heterogeneity, phenotypic variability, lacking genotype-phenotype correlations and the absence of disease-specific biomarkers remain major issues. NEOCYST addresses these challenges by matching the ongoing revolution in molecular biology with an improved efficacy of deep clinical phenotyping. Based on an international registry and a comprehensive biobank, NEOCYST reaches for a detailed clinical characterization focusing on long-term follow-up and extrarenal manifestations such as visual impairment, hyposmia and ciliopathy-related liver disease. Neuropsychological symptoms are assessed in a cross-linked approach. Back-to-back analyses of different gene defects are used to reveal disease-specific features stratifying individual patient management. Biosamples are used to identify disease-specific markers while whole exome/genome sequencing is used to detect new genetic defects. Innovative techniques like 3D spheroids, cell programming, genomic engineering, ciliary immuno-staining, and high throughput drug screening are integrated in the network. Finally, validated patient outcome reports are used to obtain an objective impression on the quality of life of affected families. International collaborations, e.g. via ERKNet, provide the critical patient mass required to improve the evidence base for clinical management and development of novel therapeutic approaches. |
Lead principal investigator(s): |
Jens Koenig, Münster Martin Konrad, Münster Franz Schaefer, Heidelberg |
Co-investigator(s): |
Holger Storf, Frankfurt Lars Pape, Essen Dieter Haffner, Hannover Petra Pennekamp, Münster Stefanie Weber, Marburg Inge Kamp-Becker, Marburg Carsten Bergmann, Mainz Charlotte Gimpel, Freiburg Bernhard Schermer, Cologne Norbert Gretz, Mannheim |
Project Period: |
02/2016 - 07/2022 |
Sponsors: |
National funding agency |
Project web page: |
www.neocyst.de |