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Kidney tubulopathies are genetic disorders affecting kidney tubule function, leading to blood pressure changes, electrolyte imbalances, seizures, and cardiac arrhythmias. No curative therapies are available, and current treatment remains symptomatic.
Due to the absence of mitochondrial DNA in standard genetic testing, we only recently identified mitochondrial DNA mutations as a previously undetected cause of kidney tubulopathies. However, research on such mutations has been hampered by the lack of accurate laboratory models and techniques to edit mtDNA.
In this 4-year PhD project, we will develop patient‑derived kidney models, correct mtDNA mutations using advanced techniques, and investigate the consequences for ion transport. Our interdisciplinary team combines expertise in mitochondrial gene editing, kidney organoids, and functional testing to determine how these mutations cause disease. This will yield new insights, improved diagnostics, and tools for future therapies.
In this project, you will:
You will conduct your PhD at the Regenerative Medicine Center Utrecht (RMCU), within the departments of Nephrology (UMC Utrecht) and Metabolic Diseases (WKZ). In international, multidisciplinary teams, you will design and perform research nephrology, genetics, and physiology, generate and analyse data for publications and present at national and international conferences. You will participate in a national consortium on kidney tubulopathies, collaborating closely with PhD candidates at UMC Utrecht and Radboudumc.
The Department of Nephrology provides care across all stages of kidney failure and offers a full range of renal replacement therapies, including haemodialysis, peritoneal dialysis, and transplantation. Our translational research is embedded within the strategic themes Regenerative Medicine & Stem Cells and Circulatory Health. As part of the RMCU, our laboratory benefits from a collaborative, innovative environment and contributes to training future clinicians and scientists.
The WKZ is the paediatric hospital of UMC Utrecht and a national expertise center for rare and complex childhood disorders. The Department of Metabolic Diseases provides specialized care for inherited metabolic conditions and conducts research to improve diagnostics, understand mechanisms, and develop new therapies, including gene-based approaches.
We are looking for a talented and highly motivated PhD student with strong communication skills in English. You hold a master’s degree in biomedical sciences, (Molecular) Biology, Biotechnology, or an equivalent life science degree.
You have proven experience in advanced cell culture, ideally including work with human adult stem cells and organoids. Experience with gene-editing technologies is considered an advantage. You bring a solid background in molecular and cell biology and are familiar with techniques such as cloning, (q)PCR, transfection or viral transduction. You have strong social skills that support effective teamwork, and you are driven by curiosity, resilience, and a continuous desire to learn and innovate.

Wij geloven in de kracht van een divers team waarin ruimte is voor verschillende vaardigheden, expertises, sociale en culturele achtergronden. Wij zijn benieuwd naar jou!
Onze nieuwe collega's werven we zelf. We hebben geen behoefte aan acquisitie.
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