Ria Anne-Rose Schönauer

This paper evaluates base editing strategies for treating ADTKD-UMOD by correcting pathogenic UMOD variants and inactivating mutant alleles, showing efficient correction and expression modulation in cell models.

This study shows that CRISPR base editing can correct pathogenic PKD1 variants in mice, reducing liver cysts and increasing polycystin-1 expression.

KidneyNetwork predicts kidney-specific gene functions and disease phenotypes using co-expression networks, identifying ALG6 as a candidate gene for kidney and liver cysts in undiagnosed patients.