Group 1 : Genetics of inherited and acquired rare renal diseases

Over the past two decades, we identified novel rare renal diseases as well as new mechanisms of disease. Illustrative examples of our discoveries are: 1) the anti-NEP-induced membranous nephropathy which laid the ground for the identification of other antigens responsible for the adult form of the disease, and 2) the HANAC syndrome. We demonstrated that the underlying mechanisms are not confined to the effect of some rare gene mutations on the renal function, but that they can apply to systemic or other organ disorders as well. We plan to pursue our studies by an in-depth investigation of membranous nephropathy and allograft rejection (as models of distorted immunity), collagen IV-related disorders and polycystic kidney disease (as models of basement membrane and cilium diseases) from the gene variants involved to the pathophysiology and the bedside. Our ultimate objectives are to identify new biomarkers of disease and novel (use of) drugs which could be rapidly translated in patient’s care.