Albertien M. van Eerde

This study shows that loss of nephrocystin-1 in kidney organoids impairs DNA repair, increases senescence, and leads to fibrosis, revealing a new role for NPHP1 in DNA damage response.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

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.