McMaster University

McMaster University

John Waye

, PhD

Professor, Pathology and Molecular Medicine

Division: Clinical Pathology

Associate Member, Medicine

McMaster University
3N17 Health Sciences Centre
905-521-2100 ext. 76273

Currently accepting Graduate Students

John Waye

Faculty Biography

Education and Professional Standing

PhD Medical Genetics, University of Toronto, 1987

MSc Biology, McMaster University, 1984

BSc Microbiology, University of Guelph, 1981


The general area of Dr. Waye's research is human molecular genetics. Research programs include:

  • The study of human genetic disease, particularly the relationship between genotype and phenotype
  • Forensic identity testing

The focus of the first program is the identification of genetic determinants of the clinical severity of hemoglobinopathy syndromes, the Smith-Lemli-Opitz syndrome, and metachromatic leukodystrophy. The focus of the second program is statistical approaches to the interpretation of forensic DNA evidence.

Methodologies include Southern hybridization, PCR amplification, direct mutation analysis, nucleotide sequencing, and population screening.

Selected Publications

  • Nowaczyk MJ, Martin-Garcia D, Aquino-Perna A, Rodriguez-Vazquez M, McCaughey
  • D, Eng B, Nakamura LM, Waye JS. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. Am J Med Genet. 2004 Mar 1;125A(2):173-6.
  • Lafferty JD, Waye JS, Chui DH, Crawford L, Raby A, Richardson H; Quality Management Program-Laboratory Services Hematology Committee. Good practice guidelines for laboratory investigation of hemoglobinopathies. Lab Hematol. 2003;9(4):237-45.
  • Walker L, McFarlane A, Patterson M, Eng B, Waye JS. Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation. Hemoglobin. 2003 Nov;27(4):253-6.
  • Waye JS, Patterson M, Walker L, Eng B, Nakamura LM, Lafferty JD, Yong SL, Wu JK, Chui DH. Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis. Am J Hematol. 2003 Nov;74(3):179-81.
  • Waye JS, Nakamura LM, Eng B, Hunniset L, Chitayat D, Costa T, Nowaczyk MJM. (2002) Smith-Lemli-Opitz syndrom: carrier frequency and spectrum of DHCR7 mutations in Canada. J Med Genet. J Med Genet. 2002 Jun;39(6):
  • Waye JS, Eng B, Patterson M, Carcao MD, Olivieri NF, Chui DHK. (2001) Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases. Am J Hematol 68:11-15.
  • Waye JS, Chui DHK. (2001) The alpha-globin gene cluster: genetics and disorders. Clin Invest Med 24:103-109.
  • Nowaczyk MJM, Waye JS. (2001) The Smith-Lemli-Opitz syndrome: a novel way of understanding developmental biology, embryogenesis, and dysmorphology. Clin Genet 59:375-386.
  • Nowaczyk MJM, Nakamura LM, Waye JS. (2001) DHCR7 and Smith-Lemli-Opitz syndrome. Clin Invest Med 24:311-317.
  • Nowaczyk MJM, Nakamura LM, Eng B, Porter FD, Waye JS. (2001) Frequency and ethnic distribution of the common DHCR7 mutation in the Smith-Lemli-Opitz syndrome. Am J Med Genet 102:383-386.
Valid XHTML 1.0 Transitional Level Double-A conformance, W3C WAI Web Content Accessibility Guidelines 2.0