Martin Somerville

Martin Somerville

Professor & Director, Genetic Lab Services

Medical Genetics
Medical Sciences Building
(780) 407-7614


Academic Degrees and Training

  • BSc: University of Western Ontario
  • MSc: University of Western Ontario
  • PhD: University of Toronto
  • Postdoctoral training: Surrey Place Centre, University of Toronto
  • Postdoctoral training: Children's Hospital of Eastern Ontario, University of Ottawa
  • Fellow, Canadian College of Medical Geneticists
  • Fellow, American College of Medical Genetics

Current Research Interests

Molecular Diagnostics

Molecular diagnostics is an application of basic research findings in human genetics to clinical practice. Our laboratory is involved in ongoing research in two areas: the application of new technologies to identify mutations in established genetic disorders, and the development of testing procedures for recently characterized disorders. In addition, we are involved in human genome screening projects which are designed to identify the loci for several hereditary conditions.

Selected Publications

Somerville, M.J., C.B. Mervis, E.J. Young, E-J. Seo, M. del Campo, S. Bamforth, E. Peregrine, W. Loo, M. Lilley, L. A. Pérez-Jurado, C.A. Morris, S.W. Scherer, L.R. Osborne (2005). Severe Expressive-Language Delay Related to Duplication of the Williams?Beuren Locus. New Engl. J. Med. 353: 1694-1701.

Dammika P. Manage, D.P., Y. Zheng, M.J. Somerville, C.J. Backhouse (2005) On-chip HA/SSCP for the Detection of Hereditary Haemochromatosis. Microfluid. Nanofluid. 1: 364-372.

McDaniel, L.D., D.J. Tomkins, E.J. Stanbridge, M.J. Somerville, E.C. Friedberg, R.A. Schultz (2005). Mapping of a single human locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. Am. J. Hum. Genet. 77: 132-139.

Yobb, T.M., M.J. Somerville, L. Willatt, H.V. Firth, K. Harrison, J. MacKenzie, N. Gallo, B.E. Morrow, L.G. Shaffer, M. Babcock, J. Chernos, F. Bernier, K. Sprysak, J. Christiansen, S. Haase, B. Elyas, M. Lilley, S. Bamforth, and H.E. McDermid (2005) Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome. Am. J. Hum. Genet. 76: 865-876.

Leonard, N.J., A.L. Krol, S. Bleoo, M.J. Somerville (2005). Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. J. Med. Genet. 42:e2 ( doi: 10.1136/jmg.2003.017376

Christiansen J., J.D. Dyck, B.G. Elyas, M. Lilley, J.S. Bamforth, M. Hicks, K.A. Sprysak, R. Tomaszewski, S.M. Haase, L. Vicen-Wyhony, M.J. Somerville (2004). Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ. Res. 94(11): 1429-1435.

Footz, T., M.J. Somerville, R. Tomaszewski, B. Elyas, C.J. Backhouse (2004). Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis. Analyst 129: 25-31.

Graduate Student

Susan Christian