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Precision modelling of FHHNC using patient-derived kidney organoids for mechanistic and therapeutic discovery. VHIR is seeking an outstanding and highly motivated postdoctoral researcher to apply for a Marie Skłodowska-Curie Postdoctoral Fellowship and join the Kidney Pathophysiology Research Group.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a devastating ultra-rare renal tubulopathy caused by loss-of-function mutations in CLDN16 and CLDN19. The disease leads to severe magnesium and calcium wasting, nephrocalcinosis, and progressive chronic kidney disease, often culminating in renal failure at a young age. Patients carrying CLDN19 mutations may develop early-onset ocular defects. A striking feature of FHHNC is phenotypic variability, particularly among sibl...