Constantin Polychronakos

Constantin Polychronakos

Constantin Polychronakos, M.D.

Professor, Department of Pediatrics
Leader, Child Health and Human Development Program, RI-MUHC
Endocrine Genetics Laboratory
Cross-Appointment in Human Genetics and Experimental Medicine
MUHC, Montreal Children's Hospital site, 2300 Tupper Montreal Qc, H3H 1P3

Tel: 514-412-4315

Constantin.Polychronakos [at]
Website 1
Website 2

Biographical Sketch

Dr. Polychronakos obtained his MD degree from the Aristotelian University, Greece and had post-graduate training in pediatrics and endocrinology in Canada (Dalhousie and Université de Montréal) followed by MRC-supported research training at the Polypeptide Laboratory at McGill, where he is on faculty since 1983. He was co-leader of the Endocrine-Renal axis for ten years (1998-2008) and he is currently leader of the Child Health and Human Development Program at RI-MUHC and Editor-in-Chief of the Journal of Medical Genetics.


Diabetes, autoimmunity, thymus, T-lymphocytes, genetic association, quantitative trait locus

Research or Clinical Activities

Dr. Polychronakos' main research interest is the molecular genetics and immunology of diabetes, as well as the functional evaluation of complex-trait loci. He played a central role in the first genome-wide association studies for both types of diabetes and made seminal contributions to the role of the thymus in the central tolerance to tissue-specific proteins.

Selected Recent Publications

Li M, Beauchemin H, Popovic N, Peterson A, d'Hennezel E, Piccirillo CA, Sun C, Polychronakos C. The common, autoimmunity-predisposing 620Arg > Trp variant of PTPN22 modulates macrophage function and morphology. Journal of Autoimmunity 2017 May 79:74-83 PMID: 28237724

Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB, Rossi WC, Feudtner C, Murad MH; Drug and Therapeutics Committee and Ethics Committee of the Pediatric Endocrine Society. Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency. Hormone Research in Paediatrics  2016  86:361-397 PMID: 27884013 

Moosavi M, Séguin J, Polychronakos C. Effect of autoimmunity risk loci on the honeymoon phase in type 1 diabetes. Pediatric Diabetes. 2017 Sep;18(6):459-462. PMID: 27503178

Polychronakos C, Alriyami M. Diabetes in the post-GWAS era. Nature Genetics 2015  47:1373-4 PMID: 26620109

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Russell RK, Wilson DC, Silverberg MS, Annese V, Lie BA, Punaro M, Dubinsky MC, Monos DS, Strisciuglio C, Staiano A, Miele E, Kugathasan S, Ellis JA, Munro JE, Sullivan KE, Wise CA, Chapel H, Cunningham-Rundles C, Grant SF, Orange JS, Sleiman PM, Behrens EM, Griffiths AM, Satsangi J, Finkel TH, Keinan A, Prak ET, Polychronakos C, Baldassano RN, Li H, Keating BJ, Hakonarson H. Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. Nature Medicine 2015 21:1018-27 PMID: 26301688 

Rousseau-Nepton I, Okubo M, Grabs R; FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. CMAJ. 2015 187 :E68-73. PMID: 25602008

Somatic point mutations occurring early in development: a monozygotic twin study. Li R, Montpetit A, Rousseau M, Wu SY, Greenwood CM, Spector TD, Pollak M, Polychronakos C, Richards JB. Journal of Medical Genetics. 2013 Oct 11. doi: 10.1136/jmedgenet-2013-101712. [Epub ahead of print] PMID: 24123875

Genome-wide search for exonic variants affecting translational efficiency. Li Q, Makri A, Lu Y, Marchand L, Grabs R, Rousseau M, Ounissi-Benkalha H, Pelletier J, Robert F, Harmsen E, Hudson TJ, Pastinen T, Polychronakos C, Qu HQ. Nature Communications. 2013;4:2260. doi: 10.1038/ncomms3260.

PubMed Publications –  C. Polychronakos


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