ERKNet

The European Rare Kidney Disease Reference Network

  

Research Project

Project Title:

The RENome and beyond

Project Type:

Translational research

Disease group(s):

Renal malformations

Project Summary:

About 20% of patients with end stage renal disease (ESRD) before the age of 30 do not have a primary renal
disease (PRD) diagnosis. Undetected genetic renal disease may hamper their transplantation career and
leaves relatives at risk undetected and might lead to the refrainment of adequate treatment or the exposure
to potential toxic treatment. So far, genetic studies have focused on specific clinical diagnoses. In CKD-Y
(Kolff KSTP 12-010) We took an award winning approach (please see Research Environment); by
sequencing a panel of 399 renal disease genes (“the RENome”) in 200 cases with ESRD onset before age
30 and providing an unbiased molecular diagnosis in at least 14.4% of these. Moreover, we were able to
confidentially revise the clinical PRD diagnosis in at least 6% of the patients. We thus have valuable proof of principle with great potential for widespread clinical implementation. Indeed, these results have led to
inclusion of a specified panel of genes (CKD-Y panel) into the gene panel sequencing approach that has
already been fully implemented in the diagnostic laboratory. Yet the most interesting aspect of this approach is its potential to confidentially revise (or confirm) PRD diagnoses. This finding offers exciting new opportunities for gene panel diagnostics in nephrology, which I aim to explore within the current project: The RENome and beyond. Results from this study will allow us to accelerate our research for young ESRD patients (and their family members), towards a future where a - non-invasive – “genome-first” approach in the diagnostic work-up of severe renal disease patients will become reality. It also gives us the opportunity to train a young scientist-physician within our multidisciplinary clinical and research team dedicated to hereditary and congenital nephrologic and urologic disorders, to become an all-round nephrogeneticist.

Lead principal investigator(s):

Albertien vanEerde, Utrecht

Co-investigator(s):

,
Gerjan Navis, Groningen
Roel Goldschmeding, Utrecht
Martin de Borst, Groningen
Francesca Nuzzi, Naples
Tri Nguyen, Utrecht
Maarten Rookmaaker, Utrecht
Rachel Giles, Utrecht
Franke Franke, Groningen
Bert van de Zwaag, Utrecht

Project Period:

01/2016   -   12/2019

Sponsors:

National funding agency

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