2008 NephCure Award Recipients NephCure Young Investigator Award Markus Bitzer, M.D. University of Michigan, Ann Arbor, MI The role of microRNAs in progression of FSGS MicroRNAs are small molecules that play an important role in gene expression, regulating the building of proteins to keep them in the right balance. Dr. Bitzer has found that the amounts of some of these microRNAs in the kidneys of patients with FSGS are different than in healthy people. Dr. Bitzer is investigating the function of microRNA-21 and other microRNAs in the kidney to determine how these molecules are expressed and how they might influence disease. Identifying these mechanisms may lead to the development of new therapies for FSGS using drugs that inhibit microRNAs. Post-Doctoral Fellow Elizabeth Brown, M.D. Boston Children’s Hospital, Boston, MA Identification of a new FSGS gene: Linkage mapping of a large family Genetic mapping is a critical step to understanding how a person inherits the propensity to express certain diseases. In searching for a gene associated with the cause of FSGS, Dr. Brown used genetic data from a large family with a history of FSGS and found mutations in the gene area INF2. This discovery allows researchers to get closer to discovering the cause of the disease. Rasheed Gbadegesin, M.D. and Michelle Winn, M.D. Duke University Medical Center, Durham, NC Molecular genetics of Nephrotic Syndrome Dr. Gbadegesin and Dr. Winn collaborated at the Duke Center for Human Genetics where they examined the genes of more than 100 families in which many members have FSGS. They sequenced and analyzed genes to find the specific locations or ‘loci’ of a gene or DNA sequence on a chromosome associated with FSGS and the risk factors associated with FSGS disease progression. While the cause of FSGS remains unknown, recent advances in the field of molecular genetics have shown that a defect in genes encoding a component of the kidney filtering mechanism may be responsible for some cases. NephCure Young Investigator Award Anna Greka, M.D., Ph.D. Massachusetts General Hospital, Boston, MA TRPC1 and TRPC5 channels in glomerular podocytes: Putative role in the pathogenesis of FSGS Cells are regulated by signals that direct the movement of substances into and out of the cells through pores or channels. Channels in the podocytes interact, and a mutation in a gene of one ion channel (TRPC6) is linked to podocyte injury and may play a role in FSGS. Dr. Greka is studying the mechanisms that control channels to help identify a possible cause of FSGS. Findings may help identify targets for the development of drug therapies. NephCure Young Investigator Award Michael Janech, Ph.D. Medical University of South Carolina, Charleston, SC Discovery of urine biomarkers in patients with glomerular disease Currently, the primary causes of NS (Minimal Change Disease, FSGS, and Membranous Nephropathy) can only be conclusively identified with a kidney biopsy. However, biopsies are not always accurate, especially among patients with FSGS because the disease process is found only in segments of the tissue. Dr. Janech is working to discover urine biomarkers as a non-invasive method to diagnose kidney diseases. A urine biomarker could also allow for earlier detection and possible prevention. See Awardees From Other Years: 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2009 2008