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SAMUELS , Mark E.  PhD
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CHU Sainte-Justine
Centre de recherche
3175 Chemin de la Côte Sainte-Catherine
Montréal  (QC), Canada
H3T 1C5
514 345-4931 #4265
514 345-4801
Career Summary, Research Topics and Interests

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.

Most Important Publications Selected by the Researcher
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout A, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore D, Samuels ME,
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
Nat Genet 2011  360-364.
Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, FORGE Canada Consortium, Michaud JL, Samuels ME,
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome
Hum Mutat 2011  1114-1117.
Guernsey DL, Jiang H, Campagna DR, Evans S, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez C, Samuels ME,
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
Nat Genet 2009  651-653.
Guernsey DL, Jiang H, Evans S, Ferguson M, Matsuoka M, Nightingale M, Rideout A, Provost S, Bédard K, Orr A, Dubé MP, Ludman M, Samuels ME,
Mutations in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2
Am J Hum Genet 2009  120-129.
Samuels ME, Orr A, Guernsey DL, Dooley K, Riddell C, Riddell C, Hodgkinson K, Ludman M, Pullman DP,
Is gene discovery research or diagnosis?
Genet Med 2008  385-390.
Publications reported to FRSQ

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