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, Renal malformations, Obstructive nephropathies, 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

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