Genome-Based Advances in Modelling Renal Ciliopathies and Enhancing Patient Care.

Background: Genetic diseases collectively affect more than 300 million individuals worldwide, posing a significant health burden, as diagnosis is often challenging and therapeutic options are limited. Recent genetic technological advancements are improving the management of many inherited disorders, including genetic kidney disorders (GKDs), the leading cause of early-onset chronic kidney disease (CKD) and the cause of 10-15% of kidney replacement therapy in adults.

Summary: GKDs fall into different clinical categories, including cystic and fibro-cystic diseases in the setting of ciliopathies, rare conditions caused by the dysfunction of the primary cilium (PC), typically characterized by multiorgan dysfunction. CKD is a significant cause of morbidity and mortality in these patients and a correct diagnosis is crucial for patient's management.

Key message: The present review analyzes whether advances in genomic technologies have provided benefit in the ciliopathy field, in both modelling renal diseases and improving patient's care.