The focus of the research in my group is in the area of genetic and metabolic liver diseases. We have been studying the role of hepatic iron overload and mutations in the hemochromatosis (HFE) gene in hereditary hemochromatosis, chronic viral hepatitis, nonalcoholic steatohepatitis and end-stage…
more cirrhosis. In the area of hemochromatosis, we are characterizing the phenotypic features associated with mutations in other genes involved in iron transport, such as transferrin-receptor 2, HAMP and hemojuvelin. Our translational research program is aimed at understanding the relationship between duodenal expression of genes involved in iron transport and expression of the hemochromatosis phenotype among individuals homozygous for HFE mutations using RT-PCR and microarray techniques and in understanding factors regulating iron absorption in humans and murine models of hemochromatosis. In the area of end-stage cirrhosis, we are examining the effect of hepatic iron overload on long-term outcomes after liver transplantation via multicenter cohort and population-based studies. Another major research interest is nonalcoholic steatohepatitis, an increasingly prevalent liver disease. We are examining the contribution of body iron stores and HFE mutations to insulin resistance, oxidative stress and liver injury in this disease via cross-sectional studies and prospective trials of iron depletion.
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