Malgorzata Nowaczyk

, MD, FCCMG, FRCPC

Associate Professor
Pathology and Molecular Medicine

Division: Clinical Pathology

Program Director, Canadian College of Medical Geneticists (CCGM) Training Program

Associate Member, Pediatrics

McMaster University
3N16 Health Sciences Centre
905-521-2100 ext. 73042
nowaczyk@hhsc.ca

Education and Professional Standing

• FCCMG Clinical Genetics, 1996
• FRCPC, 1994
• MD, University of Toronto, 1985

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Interests

Research and Clinical Focus

As a Pediatrician and Geneticist, Dr. Nowaczyk provides service through the Hamilton Regional Laboratory Medicine Program. Her research interests include Smith-Lemli-Opitz syndrome and syndrome delineation. In collaboration with her colleagues, Dr. Nowaczyk writes case reports and helps report on patient clinical findings.  She also participates in research endeavors through the provision of patient materials. 

Academic Interests

Dr. Nowaczyk is also actively involved in the Undergraduate MD and Postgraduate Pediatric Programs. She was the recipient of the McMaster University Pediatric Residence Teaching Award in 1998.

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Selected Publications

• M.J.M. Nowaczyk. The Blemmy: A Medieval Grotesque Inspired by Iniencephaly. Am Journal of Medical Genetics, 2010;158A:1583-1585.
• Wang JC, Fisker T, Dang L, Teshima I, Nowaczyk MJ. 4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations. Am J Med Genet A. 2009 Oct;149A(10):2274-9.
• Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ. Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 1;146(3):354-60.
• Waye JS, Eng B, Potter MA, Nowaczyk MJ, McFadden D, Langlois S. De novo mutation of the DHCR7 gene in a fetus with a severe Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2007;143:1799-801.
• Waye JS, Eng B, Nowaczyk MJM. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. Prenat Diagn 2007;27:638-40.
• S. Zeesman, MJM Nowaczyk, I Teshima, W Roberts, J Oram Cardy, J Brian, L Senman, S Choufani, LR Osborne, and SW Scherer. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 which involves FOXP2. Am J Hum Genet. 2006 Nov;79(5):965-72.
• Craig WY, Haddow JE, Palomaki GE, Kelley RI, Kratz Lem Shackleton CH, Marcos J, Tint SG, MacRae AR, Nowaczyk MJ, Klza EM, Irons MB, Robertson M. Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn 2006;26:824-9.
• Nowaczyk MJ, Waye JS, Douketis JD. DHCR7 mutation carriers and prevalence of the RSH.Smith-Lemli-Opitz syndrome: where are the patients? Am J Med Genet A 2006;140:2057-62.
• Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, Goryluk-Kozakiewicz B, Nowaczyk MJ, Krajewska-Walasek M. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Eur J Med Genet. 2006:499-504.