We have compiled all Kidney genome wide association data sets (GWAS) and begun deciphering the mechanisms of variants driving changes to renal physiology
One example of detailed mechanisms we have discovered was that noncoding variants upstream of a novel transcriptional start site of SHROOM3 regulate gene expression through transcription factor looping. In addition we identified additional rare missense variants in SHROOM3 that associated with Chronic Kidney Disease.
One of the biggest difficulties of studying genetics of the kidney is the lack of culture techniques for podocytes. Our lab has developed a novel culturing technique that allows us to generate foot processes that network in culture.
Microfluidics of Tubule Cells
Finally we have begun developing complex models of microfludics to test albumin uptake in renal proximal tubule cells