McMaster University

McMaster University

Malgorzata Nowaczyk


Pathology and Molecular Medicine

Division: Clinical Pathology

Associate Member, Pediatrics

McMaster University
3N16 Health Sciences Centre
905-521-2100 ext. 73042

Dr Nowaczyk

Faculty Biography

Education and Professional Standing

  • MFA Creative Writing, University of British Columbia, 2018
  • CCMG Clinical Genetics, 1996
  • FRCPC, 1994
  • MD, University of Toronto, 1990


Research Focus

The major focus of Dr. Nowaczyk’s research is genetic disorders both at the basic sciences and clinical level. Her greatest scientific contributions lie in the area of Smith-Lemli-Opitz syndrome, and new syndrome delineation where she is recognized as an expert internationally. She has participated in paradigm-shifting gene discovery of Cornelia de Lange syndrome, Floating-Harbor syndrome and encephalocranio-cutaneous lipomatosis.

Her other research endeavors relate to the way in which narratives shape the lives of patients and the patient-doctor interactions – a field called narrative medicine.

She has received a Master’s of Fine Arts degree in creative writing from University of British Columbia and her work has appeared in many Canadian and American literary journals.

Clinical Focus

Dr. Nowaczyk spends most of her professional time in the area of clinical genetics providing inpatient consultations to pediatric wards and the neonatal intensive care units, and of prenatal genetics where she provides consultations for both known and emergent genetic conditions.

Academic Interests

Dr. Nowaczyk teaches undergraduate students in the Bachelor of Health Sciences Program, medical students, and post-graduate trainees in the pathology, paediatrics and obstetrics-gynaecology residency programs and CCMG administered clinical genetics fellows.


Selected Publications

  • Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJ, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis. Clin Genet. 2015 Feb 19. doi: 10.1111/cge.12575. [Epub ahead of print]
  • Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.
  • Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ. Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. Am J Med Genet A. 2015 Jan;167A(1):180-4. doi: 10.1002/ajmg.a.36790. Epub 2014 Oct 6.
  • Nowaczyk MJ. Ad infinitum. Can Med Ass J. 2014 May 12.
  • Nowaczyk MJ, Carey JC. Narrative medicine: a call to pens. Am J Med Genet A. 2013 Sep;161(9):2117-8.
  • Nowaczyk MJ. Narrative medicine in clinical genetics practice. Am J Med Genet A. 2012 Aug;158A(8):1941-7.
  • 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.
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