Mark E. Samuels , Ph.D.
    Mark E. Samuels
    Research Axis
    Metabolic and Cardiovascular Health Axis
    Research Theme
    Genetic and metabolic diseases in Quebec: diagnosis, mechanisms and interventions
    CHUSJ - Centre de Recherche

    514 345-4931 #4265

    514 345-4801

    Career Summary

    In my career I have performed research in the basic biochemistry of mammalian gene expression, developmental genetics of drosophila and human genetics. Currently, I am pursuing a formal genetic analysis of the human genome.

    Of the estimated 20,000-25,000 protein-coding genes in the human genome, fewer than 3,000 have documented mutational phenotypes. Thus the great majority of genes remain to be understood in terms of genetic function. I am addressing this problem using a combination of genetic mapping and high throughput mutation detection using rigorously defined phenotypic parameters for novel disease states. Under the auspices of Genome Canada, I recently concluded a population survey of monogenic disorders in Maritime Canada. This region is very productive in such disorders due to the occurrence of multiple founder effects based on ethnicity (Acadians, First Nations) and geography (Prince Edward Island). The project led to the discovery of 10 novel genes in which mutations cause a variety of different phenotypes of brain, skin, blood and other organ systems. Linkage-based genetic analysis requires a minimal family size to establish adequate statistical power for whole genome mapping. Whole genome or exome sequencing technologies have been adopted by geneticists to search for causes of rare diseases in groups of unrelated patients with a common clinical description. We have implemented this approach, and have recently identified several novel genes including one for a genetic form of osteoporosis. Uniting this technological advance with clinical ascertainments via the University of Montreal hospital system will allow us to identify the causes of many additional genetic disorders including disorders of the central endocrine system (pituitary).

    My laboratory is also undertaking functional analyses of some of the more interesting genes identified through human genetic analysis, with potential for development of new therapeutic approaches to important medical conditions. The gene UBIAD1, mutated in a rare corneal dystrophy, is involved in intracellular cholesterol transport, and may be a component of vitamin K biosynthetic pathways. Studies of UBIAD1 may provide a novel approach to modulating systemic lipid levels, leading to reduced risk of heart disease.

    Awards and Distinctions

    • US Presidential Scholar Phi Beta Kappa Sigma XI.

Every dollar counts!

Thank you for your generosity.

It's people like you that allow us to accelerate research and heal more children better every year and, as such, offer among the best healthcare in the world.

It's also possible to give by mail or by calling toll-free

1-888-235-DONS (3667)

Contact Us

514 345-4931


© 2006-2014 CHU Sainte-Justine.
All rights reserved.
Terms of Use, Confidentiality, Security


Les informations contenues dans le site « CHU Sainte-Justine » ne doivent pas être utilisées comme un substitut aux conseils d’un médecin dûment qualifié et autorisé ou d’un autre professionnel de la santé. Les informations fournies ici le sont à des fins exclusivement éducatives et informatives.

Consultez votre médecin si vous croyez être malade ou composez le 911 pour toute urgence médicale.

CHU Sainte-Justine