Projects
Identification of new genes and disease modifier alleles for complex retinal dystrophies and ciliopathies Ghent University
Over 200 disease genes and loci account for ~50% of cases, leaving dozens of genes awaiting discovery. In addition to non-syndromic RDs, there is a wide range of complex RDs, with accompanying phenotypes varying from red blood cell to skeletal aberrations. A subset of complex RDs has been classified as ciliopathies, a broad spectrum of severe phenotypes caused by mutations in ciliary genes. Intriguingly, a majority of families with retinal ...
The ER-quality control protein Rer1p is required for functional cilia - implications for zebrafish development and monosomy 1p36. KU Leuven
LOCALIZATION AND REGULATION OF GAMMA-SECRETASE IN CILIOGENESIS: IMPLICATIONS IN HEALTH AND DISEASE KU Leuven
Cilia project from the surface of most vertebrate cells, and are important for several physiological and developmental processes. Ciliary defects are linked to a wide variety of human diseases, named ciliopathies, underscoring the importance of understanding signaling pathways involved in cilia formation and maintenance. Here we show that Rer1p, a protein quality control receptor residing in the ER-Golgi ...
Cytopenia and Autosomal Dominant Polycystic Kidney Disease (ADPKD) KU Leuven
The genetic basis of ADPKD is well known but the pathogenic role of the polycystins is poorly understood. Apart from the well-known effect of the intrinsic loss of PC-1 and PC-2 on cyst proliferation and growth, an important pathophysiological role is attributed to the immune system, both adaptive and innate. Thus, the infiltration of immune cells may be directly caused by the underlying molecular PKD defects. Recently we have reviewed the ...
Study of osteoarthritis-associated genes using zebrafish and chick developmental models. KU Leuven
Osteoarthritis (OA) is a disorder of the synovial joints and a leading cause of impaired movement and pain, affecting millions of people worldwide. The disease is characterized by a progressive degradation of the articular cartilage and associated defects of the subchondral bone. Over the past decades, genetic and environmental risk factors that predispose to OA have been intensively investigated. Remarkably, many of the OA-associated genes ...