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Natural Sciences and Engineering

Mark E. Samuels

Human molecular genetics Human genomics Biocehmistry

Professeur agrégé

Faculté de médecine - Département de médecine

514 345-4931

mark.e.samuels@umontreal.ca

Secondary number: 514 345-4931 #4265 (Travail 1)

Profile

Research expertise

Expertise in human molecular genomics, especially the characerization of rare monogenic disorders using traditional marker assisted linkage mapping or next-generation sequencing.

Biography

Dr. Mark Samuels was a Presidential Scholar in the United States in 1975.  He received his A.B. degree summa cum laude in Molecular Biology from Princeton University, and his Ph.D. in Biology from the Massachusetts Institute of Technology where he worked in the laboratory of Prof. Phillip Sharp.  Dr. Samuels has studied the molecular mechanisms of cellular function and development for over 20 years, resulting in numerous scientific publications.  He has worked in the fields of basic gene expression, sex-determination in fruit flies, and most recently in the genetics of human disease.  As a molecular geneticist he has participated in novel discoveries of twenty genes involved in eye development, neuronal function, growth, endocrinology and iron metabolism among others. Dr. Samuels is Associate Professor in Medicine at the Université de Montréal. His laboratory studies the functions of the genes identified in the course of human genomic analysis.

Significant publications:

  1. Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Deladoey J (2013) Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrin Metab 98: 736-742.
  2. Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B (2013) Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50: 324-329.
  3. Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Deladoey J (2013) Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrin Metab 98: 736-742.
  4. Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, Michaud JL, Samuels ME. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney Syndrome identified by whole exome resequencing. Human Mutation 32: 1114-1117.
  5. Guernsey DL, Matsuoka M, Jiang J, Evans E, Macgillivray C, Nightingale M, Perry P, 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 DL, Samuels ME. (2011) Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin Syndrome. Nature Genetics 43: 360-4.
  6. Orr A, Dubé MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman ML, Guernsey DL, Samuels ME. (2011) Mutations in a novel serine protease PRSS56 in families with Nanophthalmos.
  7. Guernsey DL, Jiang H, Campagna DR, Evans SC, 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 CV, Samuels, M.E. (2009) Mutations in mitochondrial carrier protein family member SLC25A38 cause congenital sideroblastic anemia. Nature Genetics 41, 651-653.
  8. Samuels ME, Orr, A., Guernsey, D.L., Dooley, K., Riddell, C., Hodgkinson, K., Ludman, M., Pullman, D.P. (2008). Is Gene Discovery Research or Diagnosis. Genetics in Medicine 10, 385-390.
  9. Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels, M.E. (2007). Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One 8, 1-10.

education

  • 1985 — PhD — Biologie cellulaire — Massachusetts Institute of Technology

Affiliations and responsabilities

Research affiliations

Research units

Membre

Affiliated institutions

  • Centre hospitalier universitaire Sainte-Justine (CHU Sainte-Justine)

Teaching and supervision

Teaching

Courses taught (current session only)

Programs

Student supervision

Theses and dissertation supervision (Papyrus Institutional Repository)

2018

Étude des déterminants génétiques et moléculaires de la scoliose idiopathique

Graduate : Nada, Dina
Cycle : Doctoral
Grade : Ph. D.
2016

Exploration génétique de l'hypothyroïdie congénitale par dysgénésie thyroïdienne

Graduate : Magne, Fabien
Cycle : Doctoral
Grade : Ph. D.
2013

Identification des bases génétiques des myopathies à multi-minicores avec ou sans cardiomyopathie

Graduate : Chauveau, Claire
Cycle : Doctoral
Grade : Ph. D.

Projects

Research projects

2015 - 2023

CALCUL QUEBEC

Lead researcher : Paul Charbonneau , Timothée Poisot , Marie-Jean Meurs
Co-researchers : Laurent J. Lewis , Anne Bruneau , Damian Labuda , Georges Michaud , Rémy Sauvé , Michel Côté , Jacques Drouin , Normand Mousseau , François Schiettekatte , Daniel Sinnett , Mohamed Hijri , Jesse Shapiro , Mark E. Samuels , Pierre-Louis Bellec , Armand Soldera , David Sénéchal , Nikolas Provatas , Pierre-Étienne Jacques , Pierre-Étienne Jacques , Nicolas Moitessier , Stefan Sinclair , Georges Dionne , Erica Moodie , Victoria Kaspi , Lorne Archie Nelson , Jackalyn Marie Vogel , Alan C Evans , Brigitte Jaumard , Russell Davidson , Martin Aube , Ali Dolatabadi , Pierre Proulx , François Vidal , Claude Legault , Hong Guo , Alain Rochefort , André-Marie Tremblay , Alexandre Blais , Sivakumaran Nadarajah , François Bertrand , Frédéric Sirois , G. Peslherbe , Marius Paraschivoiu , André Dieter Bandrauk , Noureddine Atalla , Adam Skorek , Hugo Larochelle , Guillaume Bourque , W Robert J Funnell , Sang Yong Jeon , Guy Moore , Jacek A. Majewski , Andrew Piper , Luc Mongeau , Daniel Joseph Kirshbaum , Jun Song , Jean-Yves Trépanier , François Guibault , Éric Laurendeau , Wagdi Habashi , Thomas Fevens , Kalifa Goïta , Stéphane Moreau , Patrizio Antici , Dany Dumont , Jannette Frandsen , Gabriel Crainic , Marc Parizeau , Leandro Coelho , Hugo Martel , Laxmi Sushama , Guy Dumas , Christian Gagné , Pierre Gauthier , Louis Jean Dubé , Louis Pérusse , Alain De Champlain , Daniel Reinharz , Arnaud Droit , Frédéric Maps , Abdelkader Baggag , René Laprise , Simon Guillotte , Marie-Jean Meurs , Rober Platt
Funding sources: FRQNT/Fonds de recherche du Québec - Nature et technologies (FQRNT)
Grant programs: PVXXXXXX-(RS) Programme de regroupements stratégiques
2013 - 2018

GENETIC DETERMINANTS OF CONGENITAL HYPOTHYROIDISM

Lead researcher : Johnny Deladoëy
Co-researchers : Gregor Andelfinger , Mark E. Samuels
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXX5647-(MOP) Subvention de fonctionnement incluant les subventions de fonctionnement programmatiques (général)
2008 - 2016

(RESEAUTETE) - THE INTEGRATED RESEARCH NETWORK ON PERINATOLOGY

Lead researcher : William Fraser
Co-researchers : Maryse Lassonde , Franco Lepore , Sylvain Chemtob , Anick Bérard , Richard Ernest Tremblay , Jacques Lacroix , Mira Johri , Jacques Michaud , Jean Séguin , Jean-Claude Tardif , François Audibert , Guy Rouleau , Bryn Williams-Jones , Béatrice Godard , Marie-Pierre Dubé , Gregor Andelfinger , Nils Chaillet , Zoha Kibar , Zhong-Cheng Luo , Anne Monique Nuyt , Helen Trottier , Mark E. Samuels , Isaac-Jacques Kadoch , François Bissonnette , Marie-Josée Bédard , Luc Laurier Oligny , Emmanuelle Lemyre , Marie Hatem , Patricia Monnier , Michal Abrahamowicz , Haim Arie Abenhaim , Patricia Monnier , Tye Arbuckle , Jacquetta M Trasler , Jean-Marie Moutquin , Margaret Somerville , Togas Tulandi , Seang Lin Tan , Ri-Cheng Chian , Catherine Limperopoulos , Richard Brown , Andrew Grant , Jean-Charles Pasquier , Rhian Touyz , Mark Walker , Rosana Weksberg , Shi Wu , Elisabeth Winsor , Lise Dubois , Germaine Buck Louis , Regen Drouin , Patricke Eydoux , Warren Foster , Sonya Kashyap , Elena Kolomietz , Isabelle Marc-Series , Pierre Julien , Bruno Piedboeuf , Yves Tremblay , Gina Muckle , Éric Dewailly , Pierre Ayotte , Normand Brassard , Daria Pereg
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs:
2013 - 2014

ANALYSE GENOMIQUE DU SYNDROME EHLERS-DANLOS, TYPE HYPERMOBILE.

Lead researcher : Mark E. Samuels
Funding sources: Fondation GO
Grant programs:
2012 - 2014

ORPHAN DISEASES: IDENTIFYING GENES AND NOVEL THERAPEUTICS TO ENHANCE TREATMENT (IGNITE)

Lead researcher : Mark E. Samuels
Funding sources: Genome Atlantic
Grant programs:
2010 - 2014

IDENTIFICATION OF AUTOSOMAL RECESSIVE MUTATIONS ASSOCIATED WITH DEVELOPMENTAL ABNORMALITIES THROUGH NEXT-GENERATION RESEQUENCING

Lead researcher : Jacques Michaud
Co-researchers : Mark E. Samuels
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXX5647-(MOP) Subvention de fonctionnement incluant les subventions de fonctionnement programmatiques (général)
2009 - 2014

EMERGING TEAM IN DEVELOPMENT OF STRATEGIES FOR UPTAKE AND ANALYSIS OF NANOSEQUENCING-DERIVED DATA SETS AND LINKING TO DISEASE

Lead researcher : Michel Bouvier
Co-researchers : Jacques Michaud , Guy Rouleau , Marie-Pierre Dubé , Pierre Drapeau , Bartha Maria Knoppers , Mark E. Samuels , Sylvain Chouinard , Paul Lespérance
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs:
2010 - 2013

MALFORMATIONS CARDIAQUES CONGENITALES : VERS UNE ANALYSE GENOMIQUE INTEGRALE

Lead researcher : Gregor Andelfinger
Co-researchers : Béatrice Godard , Paul Khairy , Philip Awadalla , Mark E. Samuels , Philippe Chetaille
Funding sources: Génome Québec
Grant programs:
2008 - 2013

EMERGING TEAM IN DEVELOPMENT OF STRATEGIES FOR UPTAKE AND ANALYSIS OF NANOSEQUENCING-DERIVED DATA SETS AND LINKING TO DISEASE

Lead researcher : Guy Rouleau
Co-researchers : Michel Bouvier , Jacques Michaud , Marie-Pierre Dubé , Pierre Drapeau , Philip Awadalla , Mark E. Samuels , Sylvain Chouinard , Paul Lespérance , Bartha Maria Knoppers
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs:

Disorders of bone metabolism

Lead researcher : Mark E. Samuels

Outreach

Publications and presentations

Disciplines

  • Genetics

Areas of expertise

  • Canada (Québec)
  • Genetic Screening of Diseases
  • Embryonic Development
  • Molecular Genetics