Molecular and Clinical Studies of Insulin Resistance
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We have had a long-standing interest in the etiology of severe insulin resistance. Initially, we identified mutations in the insulin receptor gene and studied a group of patients with autoantibodies against the insulin receptor. More recently, we have concentrated on lipodystrophy syndromes: a group of heterogeneous syndromes characterized by lack of adipose tissue and severe insulin resistance. In collaborations with Dr. Abhimanyhu Garg (University of Texas Southwestern), and Dr. David Savage in the UK, we have reported mutations in the multiple genes in patients with congenital generalized lipodystrophy, familial partial lipodystrophy, and progeroid lipodystrophies. We also study how different insulin signaling pathways contribute to cardiovascular disease by contrasting rare patient populations with pathway selective vs. non-selective insulin resistance.