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, M├╝nster
Franz Schaefer, Heidelberg

Project Period:

09/2019   -   09/2030

Sponsors:

Non-profit foundation

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