ERKNet

The European Rare Kidney Disease Reference Network

  

Research Project

Project Title:

Elucidating the genetic pathomechanism underlying rare and hereditary kidney diseases (RKD)

Project Type:

Translational research

Disease group(s):

Hereditary glomerulopathies, Immune glomerulopathies, Tubulopathies, Metabolic & stone disorders, Thrombotic microangiopathies, AD structural kidney disorders, Renal malformations, Obstructive nephropathies, Pediatric CKD & dialysis

Project Summary:

The study for "Elucidating the genetic pathomechanism underlying rare and hereditary kidney diseases", which is executed in cooperation of the core partners at University Hospital Cologne: Dept. II of Internal Medicine and Institute for Human Genetics, aims to add to the understanding of the pathogenesis of these diseases.
The major aims are: # establishment of relevant patient cohorts with a genetically defined diagnosis (in known and unknown disease genes), # identification of novel genes causative for kidney diseases and the characterization of novel disease patterns, # elucidation of the pathogenetic mechanisms underlying these diseases, #development of novel therapeutic concepts from molecular findings, # and in the long term initiation and participation in clinical and scientific studies on rare kidney diseases. Target group are, besides patients with genetic kidney diseases, especially also patients with a (suspected) rare and etiologically unclear or complex (syndromic) kidney disease. If no diagnosis is possible with conventional strategies a diagnostic algorithm using novel sequencing techniques including whole exome sequencing and whole genome sequencing is central to this study.

Lead principal investigator(s):

Roman-Ulrich Mueller, Cologne
Bodo Beck, Cologne

Co-investigator(s):

Max Liebau, Cologne
Sandra Habbig, Cologne
Lutz Weber, Cologne

Project Period:

11/2015   -   10/2045

Sponsors:

Non-profit foundation, Local resources

Project web page:

https://www.drks.de/drks_web/navigate.do?navigationId=trial.HTML&TRIAL_ID=DRKS00008910

ClinicalTrials.gov:

DRKS00008910

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