Overview

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.

Background

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 siblings with identical mutations. Our group has established one of the largest FHHNC cohorts and uses an interdisciplinary strategy combining clinical ...