NEW YORK (GenomeWeb News) – The Medical College of Wisconsin said on Wednesday that it has been awarded a four-year, $1.5 million grant from the National Heart, Lung, and Blood Institute to investigate genetic variants that may contribute to end-stage renal disease (ESRD).
Howard Jacob, a professor of genetics and physiology and director of the Human and Molecular Genetics Center at MCW, is the principal investigator on the grant. He and his colleagues aim to identify new genes involved in kidney function, evaluate identified variants thought to play a role in kidney failure, and elucidate the genetic architecture of proteinuria, often a precursor of ESRD.
According to the grant abstract in the National Institutes of Health's database, the researchers specifically will test a collection of human sequence variants of SHROOM3 that they have already predicted to be dysfunctional. They also will try to identify genes underlying a previously identified quantitative trait locus participating in glomerular permeability, "which is thought to initiate proteinuria."
Lastly, they will test a hypothesis that glomerular permeability dysfunction and protein trafficking dysfunction in the proximal tubules participate together in the development of proteinuria.
Findings resulting from the research may lead to new therapeutic targets for the treatment of ESRD, MCW said.