The aim of the Metabolism Core (Meta-Core) is to facilitate the use of metabolic assays in pre-clinical models of chronic kidney disease (CKD) for the kidney community by providing the following services following consultation with core faculty:

The widespread and increasing use of whole exome sequencing (WES) and whole genome sequencing (WGS) to investigate the genetic bases for CKD and other kidney disorders has led to a much better understanding of the etiology of monogenic diseases. The aim of the Variant Validation Core (VVC) is to investigate variants of uncertain significance (VUS) discovered in patients with kidney disease or a kidney developmental disorder for potential pathogenicity. The VVC will use experimental approaches in cultured cells and in mice. The experimental approach for each VUS will be tailored for 1) the particular gene and protein that are potentially involved; and 2) the particular disease or disorder that would likely develop if the VUS is indeed pathogenic. Immediate services and resources that are being offered include: