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. He is now Professor in the Department of Pediatrics with cross-appointments in Human Genetics and Experimental medicine, and director of the Endocrine Genetics Laboratory. He was director of Pediatric Endocrinology in 1998-2013, and Leader of the Child Health and Human Development Program at RI-MUHC in 2013-2019.


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

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 Dec;29(12):1951-1961. PMID: 31694869.

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 Jan;69(1):121-126. PMID: 31658956

Forgetta V, Manousaki D, Istomine R, Ross S, Tessier MC, Marchand L, Li M, Qu HQ, Bradfield JP, Grant SFA, Hakonarson H; DCCT/EDIC Research Group, Paterson AD, Piccirillo C, Polychronakos C, Richards JB. Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes. Diabetes. 2020 Apr;69(4):784-795

Marchand L, Li M, Leblicq C, Rafique I, Alarcon-Martinez T, Lange C, Rendon L, Tam E, Courville-Le Bouyonnec A, Polychronakos C. Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection. J Clin Endocrinol Metab. 2021 May 13;106(6):1804-1810. PMID: 33538814

Qu HQ, Qu J, Bradfield J, Marchand L, Glessner J, Chang X, March M, Li J, Connolly JJ, Roizen JD, Sleiman P, Polychronakos C, Hakonarson H. Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. Commun Biol. 2021 Jul 23;4(1):908. PMID: 34302048

Li M, Rivière JB, Polychronakos C. Why all MODY variants are dominantly inherited: a hypothesis. Trends Genet. 2022 Apr;38(4):321-324. PMID: 34696899

Polychronakos C. The insulin hypersecretion hypothesis: cause or effect? Diabetologia. 2022 Mar;65(3):582. PMID: 34921606

PubMed Publications –  C. Polychronakos


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