Passer au contenu

/ Research

Rechercher

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 cellulaireMassachusetts Institute of Technology

Affiliations and responsabilities

Research affiliations

Research units

Membre

Affiliated institutions

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

Teaching and supervision

Student supervision

Theses and dissertation supervision (Papyrus Institutional Repository)

Projects

Research projects

2015 - 2022

CALCUL QUEBEC

Lead researcher : Paul Charbonneau , Timothée Poisot
Co-researchers : Jesse Shapiro , Mohamed Hijri , Daniel Sinnett , Mark E. Samuels , Laurent J. Lewis , Normand Mousseau , Anne Bruneau , Georges Michaud , François Schiettekatte , Rémy Sauvé , Michel Côté , Pierre-Louis Bellec , Damian Labuda , Jacques Drouin , Louis Jean Dubé , Guy Dumas , Marc Parizeau , Louis Pérusse , Alain De Champlain , Daniel Reinharz , Hugo Martel , Christian Gagné , Arnaud Droit , Frédéric Maps , R Platt , Alan C Evans , W Robert J Funnell , Hong Guo , Victoria Kaspi , Sang Yong Jeon , Nikolas Provatas , Russell Davidson , Jackalyn Marie Vogel , Nicolas Moitessier , Guy Moore , Sivakumaran Nadarajah , Abdelkader Baggag , Erica Moodie , Jacek A. Majewski , Andrew Piper , Luc Mongeau , Guillaume Bourque , Stefan Sinclair , Daniel Joseph Kirshbaum , Jun Song , Brigitte Jaumard , Jean-Yves Trépanier , François Guibault , François Bertrand , Alain Rochefort , Frédéric Sirois , Éric Laurendeau , Georges Dionne , Wagdi Habashi , G. Peslherbe , Thomas Fevens , Marius Paraschivoiu , Ali Dolatabadi , André Dieter Bandrauk , André-Marie Tremblay , Pierre Proulx , Noureddine Atalla , David Sénéchal , Armand Soldera , Kalifa Goïta , Alexandre Blais , Claude Legault , Stéphane Moreau , Hugo Larochelle , Pierre-Étienne Jacques , Gabriel Crainic , René Laprise , Pierre Gauthier , Laxmi Sushama , Simon Guillotte , Adam Skorek , Patrizio Antici , Dany Dumont , François Vidal , Jannette Frandsen , Lorne Archie Nelson , Martin Aube , Leandro Coelho
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-Subvention de fonctionnement incluant les subventions de fonctionnement programmatiques
2008 - 2016

(RESEAUTETE) - THE INTEGRATED RESEARCH NETWORK ON PERINATOLOGY

Lead researcher : William Fraser
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-Subvention de fonctionnement incluant les subventions de fonctionnement programmatiques
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
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 : Paul Khairy , Mark E. Samuels , Béatrice Godard , Philip Awadalla , 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
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