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
17. July 2017 (NEOCYST)
Mutations in DZIP1L, which encodes a ciliary transition zone protein, cause autosomal recessive polycystic kidney disease
Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY,Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D,
Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C
14. July 2017 (NEOCYST)
The ciliary membrane-associated proteome reveals actin-binding proteins as key components of cilia
EMBO reports 2017 Jul 14. pii: e201643846
Priyanka Kohli, Martin Höhne, Christian Jüngst, Sabine Bertsch, Lena K Ebert, Astrid C Schauss, Thomas Benzing, Markus M Rinschen& Bernhard Schermer
7. July 2017 (NEOCYST)
Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations
Pediatr Nephrol. 2017 Jul;32(7):1269-1273. doi: 10.1007/s00467-017-3648-x
Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC.
7. July 2017 (NEOCYST)
Advances in renal genetic diagnosis
Cell Tissue Res 2017 Jul;369(1):93-104. doi: 10.1007/s00441-017-2636-6.
15. May 2017 (NEOCYST)
A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome
Clin Nephrol. 2017 May 15. doi: 10.5414/CN109123.
Ebner K, Reintjes N, Feldkötter M, Körber F, Nagel M, Dötsch J, Hoppe B, Weber LT, Beck BB, Liebau MC.
16. February 2017 (NEOCYST)
ARegPKD Consortium. 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
20. January 2017 (NEOCYST)
Neues zu Zystennieren
Der Nephrologe 01/2017
Liebau MC; Kidney Week 2016
7. November 2016 (NEOCYST)
Aktuelle Forschung auf dem Gebiet der seltenen Nierenerkrankungen am Beispiel der Autosomal Rezessiven Polyzystischen Nierenerkrankung (ARPKD)
Nieren- und Hochdruckkrankheiten, Jahrgang 45, Nr. 11/2016, S. 425-431
K. Ebner, K. Zerres und M.C. Liebau
7. July 2016 (NEOCYST)
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
Eur J Med Genet 59(8):386-91, 2016
Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.
1. January 2016 (NEOCYST)
Polycystic Kidney Disease: ADPKD and ARPKD
In book: Pediatric Kidney Disease, pp.333-367 (Schaefer, Geary)