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, Congenital malformations & ciliopathies, 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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