Research Project

Project Title:	GeNepher registry and biobank
Project Type:	Registry Adjunct biobank: DNA
Disease group(s):	Hereditary glomerulopathies, Tubulopathies, Metabolic & stone disorders, Thrombotic microangiopathies, AD structural kidney disorders, Congenital malformations & ciliopathies, Pediatric CKD & dialysis
Project Summary:	GeNepher focusses on further exploring the extent of known and new monogenic causes of renal disease. We set up a registry and DNA Biobank to further analyze patients with (possible) hereditary renal disease. We will perform add-on analyses in unsolved cases. In order to be optimally able to identify new candidate genes for renal disease, we will make use of the newest methods in candidate gene prioritization and ultimately develop a Kidney Gene Regulatory Network. Finally we aim to validate several identified candidate genes functionally. The registry will be the basis for future work towards developing treatment and improving the diagnostic yield.
Lead principal investigator(s):	Albertien vanEerde, Utrecht
Co-investigator(s):	Laura Claus, Utrecht Gijs van Haaften, Utrecht Kirsten Renkema, Utrecht Lude Franke, Groningen Patrick Deelen, Groningen Floranne Boulogne, Groningen Martin de Borst, Groningen And members of the Expert Centre Hereditary and Congenital Nephrologic and Urologic disorders, UMC Utrecht
Project Period:	09/2019 - 09/2050
Sponsors:	Non-profit foundation