The major focus of our laboratory is to understand the molecular pathogenesis of nephrotic syndrome (NS) and ultimately identify novel and non-toxic therapeutic targets for the treatment of this common kidney disease. In line with this broad goal, we have been examining the molecular causes of NS and other inheritable kidney conditions using different genomic tools. In the last fifteen years, my colleagues and I have identified novel single gene causes of NS due to focal segmental glomerulosclerosis [FSGS] (RCAN1, ANLN, ARHGAP24, COQ6, PLCE1)(1,2,3,4,5), monogenic cause of childhood steroid sensitive nephrotic syndrome SSNS (CLVS1)(6) multiple disease risk loci for SSNS(7,8,9), and a new gene for vesicoureteric reflux [VUR] (a common congenital malformation of the kidney and the urinary tract)(10). In addition, we have published multiple landmark papers on genotype phenotype correlation and papers addressing overlap between different glomerular diseases(11,12).
We and our collaborators have continued to characterize the mechanisms by which these genes can cause nephrotic syndrome, and recently identified biomarkers of disease, and druggable pathways that may treat these genetic defects and the more common idiopathic nephrotic syndrome. We are using multiple cell biology tools, iPSC derived podocytes, and kidney organoids to address these questions. In addition, we have created a robust bio-repository for childhood nephrotic syndrome by world-wide collaboration and networking, and we are also playing a leading role in national and international networks that are unraveling the genetic basis for excess of chronic kidney diseases in people of African ancestry.