Kolff-grant for Kirsten Renkema

Renkema Kirsten

Kirsten Renkema of the department of Human Genetics has been awarded a Kolff career stimulation grant (150,000 Euro) by the Dutch Kidney Foundation, for a 2-year project entitled: "Whole exome sequencing for the identification of gene defects in congenital anomalies of the kidney and urinary tract (CAKUT)".

The Kolff career stimulation grant is meant for highly talented young post docs in the field of renal research. The awarded project involves whole exome sequencing in affected families to identify novel CAKUT genes, followed by further characterization of the identified genes by both in-vitro and in-vivo functional analyses.

Furthermore, gene mutation screening will be performed in a large cohort of well-phenotyped patients with isolated CAKUT, recruited within the AGORA biobank project of the RUNMC. Importantly, the revelation of gene defects involved in CAKUT aetiology will improve DNA diagnostics and genetic counseling for children born with structural renal anomalies and their family members.

In addition, this study will generate fundamental insight and mechanistic knowledge of normal and pathological kidney development, which is essential for early detection, follow-up, and fine-tuning of personalized medicine in CAKUT patients.

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