Our Researchers
Constantin Polychronakos
Endocrinology, Diabetes, Nutrition and Kidney Diseases AxisResearch Focus
Main research theme is genetics of autoimmune (type 1, or juvenile) diabetes (T1D). We are in the second phase of a genome-wide search for genetic loci predisposing to T1D. The mechanism underlying loci already discovered in the first phase is actively being studied to gain functional insights towards prediction and prevention of T1D. Mouse models of human T1D are being generated by introducing the human variaiton into the homologus, syntenic mouse locus in the expectation that preclinical therapeutic studies will be more menaninful in these animals than in existing models. The ultimate goal is to go beyond merely predicting risk, to develop genetic profiling that will distinguish different types of genetic risk that may respond optimally to different interventions (personalized medicine).
Keywords
Diabetes, genetics, genomics, autoimmunity, insulin, copy-number variation.
Selected Publications
Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SF, Polychronakos C. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes 57(4): 1143-1146; 2008.
Bouatia-Naji N, Rocheleau G, Van Lommel L, Lemaire K, Schuit F, Cavalcanti-Proença C, Marchand M, Hartikainen AL, Sovio U, De Graeve F, Rung J, Vaxillaire M, Tichet J, Marre M, Balkau B, Weill J, Elliott P, Jarvelin MR, Meyre D, Polychronakos C, Dina C, Sladek R, Froguel P. A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels. Science 320(5879): 1085-1088; 2008.
Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 448(7153): 591-594; 2007.
Contact
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