Great news from ZonMW, our Open Competition project got funded! The exciting collaboration with Marianne Verhaar and Martijn Koppens can now really take off!
In the REPAIR project, we aim to unravel the role of mutations in mitochondrial DNA (mtDNA) in hereditary renal tubulopathies. Recent findings indicate that mtDNA mutations are a more common cause of tubulopathies than previously thought. Research has however been hampered by the lack of accurate laboratory models and techniques for editing mtDNA. Our interdisciplinary team combines expertise in mitochondrial gene editing, renal tubuloids and functional assays to determine how these mutations cause disease. We develop patient-derived kidney models, correct mtDNA mutations using advanced techniques and investigate the consequences for ion transport. This yields new insights, improved diagnostics and a foundation for future therapies.
Kidney Physiology 