Research Project

Project Title:	NPHP1-consortium
Project Type:	Translational research
Disease group(s):	Pediatric CKD & dialysis
Project Summary:	Our group published surprising findings on the prevalence of the classical pediatric kidney disease NPHP1-nephronophthisis in adults. It turns out that 0.5% of all adult onset end stage renal disease patients have a causative homozygous NPHP1 deletion. We have started an international NPHP1-consortium to collect NPHP1 cases with renal disease onset at all ages to investigate modifiers of NPHP1-nephronophthisis and study the extreme variability of age at onset of end stage renal failure.
Lead principal investigator(s):	Albertien vanEerde, Utrecht
Co-investigator(s):	Laura Claus, Utrecht Roman-Ulrich Mueller, Cologne Max Liebau, Cologne Jan Halbritter, Leipzig Peter Conlon, Dublin Jens Koenig, Münster Franz Schaefer, Heidelberg
Project Period:	09/2019 - 09/2030
Sponsors:	Non-profit foundation