Constantin Polychronakos, MD
Primary Axis:
Endocrinology, Diabetes, Nutrition and Kidney Diseases
Secondary Axis:
Medical Genetics and Genomics
Email:
Email contact form Research Focus:
The Endocrine Genetics Laboratory focuses on the genetic causes of type 1 diabetes (T1D) an autoimmune disease due an attack on the pancreas by the immune system. Genetic predisposition to T1D depends on many different genes each of which contributes a small part of the risk. Once the genes are known, we then need to understand how they affect the immune system to cause this failure of self-tolerance. We have recently discovered a gene whose function is to create new insulin-producing cells. This gene may play an important role in the effort to cure diabetes.
External Website:
External Website Keywords:
Diabetes, genetics, genomics, autoimmunity, insulin, copy-number variation.
Location:
Montreal Children's Hospital Publications:
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.
Rfx6directs islet formation and insulin production in mice and humans. Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, Miyatsuka T, Mitchell J, Seerke R, Désir J, Eijnden SV, Abramowicz M, Kacet N, Weill J, Renard ME, Gentile M, Hansen I, Dewar K, Hattersley AT, Wang R, Wilson ME, Johnson JD, Polychronakos C, German MS. Nature. 2010 Feb 11;463(7282):775-80. PMID: 20148032
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.
