Mark E. Samuels

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

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.