null Constantin Polychronakos, M.D.

Senior Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Centre for Translational Biology

Professor, Department of Pediatrics, Faculty of Medicine and Health Sciences, McGill University

Department of Pediatrics, Division of Endocrinology and Metabolism, MUHC



diabetes • genetics • genomics • autoimmunity • cell lineage

Research Focus

My research focuses on the genetic factors that determine risk for type 1 diabetes (T1D). This form of diabetes starts in childhood and is caused by a malfunction of the patient's own immune system, which fails to recognise the pancreatic b-cells that make insulin as "self", attacks and destroys them. Affected children require insulin injections four times a day or more and blood sugar testing by finger-prick at least as many times. Even with the best efforts, it is not always possible to maintain acceptable blood sugars, which can cause serious complications. We are using next generation sequencing to study how the DNA of diabetic children differs from that of healthy individuals and how the immune cells that do the damage (a tiny fraction) differ from the rest of the patient's normally functioning lymphocytes. We hope that this will lead to new ways of predicting and preventing T1D.

Selected Publications

Click on Pubmed to see my current publications list

  • Zhu M, Li Y, Dong G, Chen X, Huang K, Wu W, Dai Y, Zhang L, Lin H, Wang S, Polychronakos C, Fu J. Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations. Eur J Endocrinol. 2021, 186(2):163-170. PMID: 34792487.

  • Alriyami M, Marchand L, Li Q, Du X, Olivier M, Polychronakos C. Clonal copy-number mosaicism in autoreactive T lymphocytes in diabetic NOD mice. Genome Res. 2019, 29(12):1951-1961. PMID: 31694869.

  • Manousaki D, Harroud A, Mitchell RE, Ross S, Forgetta V, Timpson NJ, Smith GD, Polychronakos C, Richards JB. Vitamin D levels and risk of type 1 diabetes: A Mendelian randomization study. PLoS Med. 2021 Feb 25;18(2):e1003536. doi: 10.1371/journal.pmed.1003536. eCollection 2021 Feb. PMID: 33630834.

  • Li M, Wang S, Xu K, Chen Y, Fu Q, Gu Y, Shi Y, Zhang M, Sun M, Chen H, Han X, Li Y, Tang Z, Cai L, Li Z, Shi Y, Yang T, Polychronakos C. High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations. Diabetes. 2020; 69(1):121-126. PMID: 31658956.

  • Polychronakos C, Alriyami M. Diabetes in the post-GWAS era. Nat Genet. 2015 Dec; 47(12):1373-4 PMID: 26620109.