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In the cardiovascular complications' area, Dr. Doria has made two major discoveries. First, he found that the 9p21 CHD-predisposing variant plays a larger role in determining cardiovascular risk among T2D subjects than in the general population. Such a larger effect is due to an interaction between the 9p21 locus and poor glycemic control, which points to the 9p21-controlled cell cycle pathway as a possible mediator of the atherogenic effects of hyperglycemia. Second, he has identified the first CHD locus that is specific to diabetes. The risk variant at this location (1q25) is associated with a decreased expression of the GLUL gene (glutamate-ammonia ligase) in endothelial cells and a decreased pyroglutamic to glutamic acid ratio in plasma suggesting mechanistic links with the g-glutamyl cycle. In the kidney complications' area, Dr. Doria has identified serum uric acid as a significant predictor of renal function decline in diabetes. Based on this observation, he has designed and now leads a major multicenter clinical trial of allopurinol to prevent early kidney function loss in type 1 diabetes (PERL study, http://perl-study.org/). This is the only clinical trial for diabetic kidney disease that is currently funded by the NIH. In parallel with his research on diabetic complications, Dr. Doria also cultivates an interest in maturity onset diabetes of the young (MODY). He has identified B-lymphocyte kinase (BLK) as a new MODY gene and a previously unrecognized modulator of insulin synthesis and secretion.
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