Translational nephrogenetics
nephrogenetics, translational
Research aim
The group aims to improve outcomes for patients with severe renal disease of yet unknown and/or (potentially) hereditary etiology, by providing them with optimal genetic diagnostics and counseling.
About us
Our current research focuses on:
1. Optimizing Diagnostic Strategies in Kidney Disease of Unknown Origin, and work towards clinical trial readiness:
– Our group specializes in discovering new genes. We use advanced diagnostics to solve unknown cases. We developed KidneyNetwork, which uses co-expression in kidney RNA seq data to predict unknown gene associations. Currently, we’re developing KidneyNetwork v2 with single-cell RNA seq data.
– We are building a cohort with the GeNepher biobank to support gene-finding in well-consented patients, facilitate modifier studies and work towards personalized treatment.
– In the EU Theracil consortium, we are conducting a pan-European survey on barriers to genetic testing in kidney disease. Also, we are contributing to the overall aims of clinical trial readiness for ciliopathy patients.
– In the Dutch Kidney Foundation ArtDeco consortium, we are the monogenic approaches to CAKUT workpackage (congenital anomalies of the kidney and urinary tract).
2. Reproductive Nephrogenetics:
– Collaborating with obstetrician Titia Lely, we investigate reproductive care for patients at risk of hereditary kidney disease. We address counseling for women with renal disease regarding pregnancy risks and genetic reproductive options, with a keen eye for disparities and inequalities.
– We’ve created the PreGeNeph registry of pregnancies in women with kidney disease, aiming to elucidate (among others) the role of primary etiology.
We collaborate closely with the groups that are informally united in the Kidney Research Utrecht meeting scheme. Also we are a partner in Genomics England, and work closely together with and are involved in ERKNET, the European Reference Network for Rare Kidney Disease.