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 ...
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 ...