The overall goal of our research is to identify genetic defects implicated in the onset and progression of multi-factorial metabolic diseases such as obesity and type 2 diabetes. We are in particular concentrating our research on the molecular mechanisms implicated in the hypothalamic effects of…
more the adipocyte secreted, weight-regulating hormone, leptin. We have, for example, demonstrated that mutations in the Melanocortin-4 receptor, a downstream effector of leptin signaling in the brain, are the cause of up to 5% of severe obesity cases in humans. Both through in vitro and in vivo studies we are determining how these mutations cause obesity and what the implications are for the treatment of this condition. More broadly, our laboratory combines human genetic approaches with molecular biology and animal studies to find new genes in which mutations predispose to obesity or type 2 diabetes in humans and to determine the impact and functional effects of these mutations.
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