Researcher

    Despoina Manousaki , M.D. , Ph.D.

    despina.manousaki@umontreal.ca
    Despoina Manousaki
    Research Axis
    Metabolic and Cardiovascular Health Axis
    Research Theme
    Genetic and metabolic diseases in Quebec: diagnosis, mechanisms and interventions
    Address
    CHUSJ - Centre de Recherche

    Phone
    514 345-4931 4735

    Fax
    514-345-4988

    Title

    • Assistant Professor, Departments of Pediatrics and Biochemistry and Molecular Medicine, Université de Montréal, Canada, February 2020-present
    • Clinician Scientist, Centre de Recherche du CHU Sainte-Justine, Montreal, Canada, February 2020-present

    Education

    • Ph.D., Department of Human Genetics, McGill University, Canada, 2019
    • Fellow of the Royal College of Physicians of Canada (FRCPC), Endocrinology and Metabolism, 2017
    • Fellow of the Royal College of Physicians of Canada (FRCPC), Pediatrics, 2016
    • Swiss Medical Federation (FMH), Pediatrics, 2011
    • MD, University of Athens, Greece, 2005

    Research Interests

    Our lab uses state-of-the-art methods in genetic epidemiology to study common diseases in childhood, with a focus on cardiometabolic, bone health and growth-related diseases and traits.

    Research topics

    • Genome-wide association studies
    • Polygenic risk scores
    • Mendelian randomization
    • Complex diseases and traits
    • Genetic epidemiology

    Career Summary

    Dr. Despoina Manousaki received her MD from the University of Athens, Greece, her post-graduate training in pediatrics in Switzerland (University Hospitals of Geneva) and in pediatric endocrinology in Canada (Sainte-Justine Hospital in Montreal).

    Subsequently, she obtained a PhD in genetic epidemiology from McGill University. Dr. Manousaki's research focuses on the genetics of complex disease in childhood. Her team uses genomics, bioinformatics, and genetic epidemiology methods to better understand the genetic architecture of complex disease, and to apply these findings to develop new disease biomarkers.

    Her research interests lie in the field of genetics of type 1 and type 2 diabetes in children, vitamin D levels, youth-onset osteoporosis, pediatric obesity, growth and puberty. Dr. Manousaki is an FRQS Junior 1 Clinician researcher and holds a CCHCSP career development award.

    Lab members

    • Mojgan Yazdan Panah, MD, PhD, Research Associat (Oct 2020-)
    • Nahid Yazdan Panah, MD, PhD, Research Associat (Oct 2020-)
    • Genevieve Nadeau, MD, Clinical Trainee ( Juin 2021-)
    • Sara Moline, MD, Clinical Trainee (Mar 2022-)

    Awards and Distinctions

    • 2021, Chercheur-boursier - Junior 1 - Fonds de recherche du Québec - Santé (FRQS) ·
    • 2021, Career Enhancement Program Award, Canadian Child Health Clinician Scientist Program ·
    • 2019, Pediatric Endocrine Society (PES), Clinical Scholar Award. 2018, American Society of Human Genetics (ASHG), Charles J. Epstein Trainee Award for Excellence in Human Genetics Research – Semi-finalist ·
    • 2017, Juvenile Diabetes Research Foundation (JDRF), Postdoctoral Fellowship · 2017, Fonds de recherche du Québec - Santé (FRQS), Bourse de doctorat ·
    • 2016, Canadian Society of Endocrinology and Metabolism (CSEM), Dr. Fernand Labrie Fellowship Research Grant

    Publications

    1. Ghanbari F, Yazdanpanah N, Yazdanpanah M, Richards JB, Manousaki D. Connecting Genomics and Proteomics to Identify Protein Biomarkers for Adult and Youth-Onset Type 2 Diabetes: A Two-Sample Mendelian Randomization Study. Diabetes 2022.
    2. Yazdanpanah N, Yazdanpanah M, Wang Y, Forgetta V, Pollak M, Polychronakos C, Richards JB, Manousaki D. Clinically-relevant circulating protein biomarkers for type 1 diabetes: evidence from a two-sample Mendelian randomization study. Diabetes Care 2021.
    3. Manousaki D, Harroud A, Mitchell RE, Ross S, Forgetta V, Timpson NJ, Smith GD, Polychronakos C, Richards JB. Genetically decreased vitamin D and risk of type 1 diabetes: PLoS Med 2021.
    4. Lu T, Forgetta V, Wu H, Perry JRB, Ong KK, Greenwood CMT, Timpson NJ, Manousaki D, Richards JB. A Polygenic Risk Score to Predict Future Adult Short Stature Among Children. JCEM 2021.
    5. 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.
    6. Manousaki D, Mitchell R, Dudding T ...and Richards JB. Genome-wide association study for vitamin D levels reveals 63 novel loci. Am J Hum Genet. 2020.
    7. Manousaki D, Kämpe A, Forgetta V, Makitie RE, Bardai G, Belisle A, Li R, Andersson S, Makitie O, Rauch F, Richards JB. Increased Burden of Common Risk Alleles in Children With a Significant Fracture History. JBMR 2020.
    8. Manousaki D, Dudding T, Haworth S.. and Richards JB. Low Frequency Coding Variation in CYP2R1 has Large Effects on Vitamin D Level and Risk of Multiple Sclerosis. Am J Hum Genet. 2017.
    9. Manousaki D, Mokry LE, Ross S, Goltzman D, Richards JB. Mendelian Randomization Studies do not Support a Role for Vitamin D in Coronary Artery Disease. Circulation: Cardiovascular Genetics 2016.
    10. Manousaki D, Kent JW Jr, Haack K, Zhou S, Xie P, Greenwood CM, Brassard P, Newman DE, Cole S, Umans JG, Rouleau G, Comuzzie AG, Richards JB. Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes. Diabetes Care 2016.
 

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