Project Summary
This project studies the pathogenesis of reno-skeletal ciliopathies. Next generation sequencing of a large patient cohort revealed mutations in TRIP11 and IFT74 causing thoracic dystrophy syndromes associated with specific developmental renal anomalies. We will now investigate the role of these proteins in ciliary protein trafficking and disease-associated signaling pathways using zebrafish, mice and (patient-derived) cell culture models. In addition, the project will continue to discover and characterize novel genes underlying reno-skeletal dysplasias as well as modifier alleles by further genetic screening of our cohort.
