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Links Medical Genetics University of Calgary
Dr. François P. Bernier

BSc (Hon), BSc (Med), MD, FRCPC, FCCMG
Associate Professor,
Departments of Medical Genetics and
Director, Clinical Genetics Unit
Tel: (403) 955-7373 
Fax: (403) 955-2701

Research Interests

I have an ongoing interest in the clinical and molecular delineation of a novel autosomal recessive disorder (dilated cardiomyopathy, cerebellar ataxia and 3-methylglutaconic aciduria) which I described in our Hutterite population. Recent work has also focused on the genetics on childhood neurodevelopmental disorders including developmental coordination disorder and autism. A large prospective cohort study of women and children is being established to explore the relationship between maternal environment and nutrition on maternal and child mental health as well as neonatal and infant health including congenital anomalies. The establishment of the cohort as well as a biobank will provide amply opportunities to explore the relationship between the maternal environment and genes.

Publications – 2006-2007

Sparkes, R., D. Patton and F. Bernier, Cardiac features of a novel autosomal recessive dilated cardiomyopathy syndrome due to defective mitochondrial protein import. Cardiology in the Young, 2006. Cardiol Young. 2007 Apr;17(2):215-7.

Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM. Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. Am J Med Genet A. 2007 Aug 1;143(15):1715-25

Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP. Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis. Clin Dysmorphol. 2007 Oct;16(4):253-6.

Hicks M, Ferguson S, Bernier FP, Lemay, JF. "A Case Report of Monozygotic Twins with Smith-Magenis Syndrome" J Dev and Bev Peds, In press

Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. Clinical genetics and the Hutterite population: A review of Mendelian disorders. Am J Med Genet A. In press

Davey, K.M., J.S. Parboosingh, D.R. McLeod, A. Chan, R. Casey, P. Ferreira, F.F. Snyder, P.J. Bridge and F.P. Bernier, Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet, 2006. 43(5): p. 385-93.

Bernier, FP, Spaetgens, R. The Geneticists Role in Adult Congenital Heart Disease. Cardiol Clin. 2006 Nov;24(4):557-69, v-vi.

Research Funding

“National epidemiologic database for the study of autism in Canada (NEDSAC) Phase II: refining approaches for prevalence and incidence determinations” 2005 – 2010

Calgary Health Region Adult Research Committee

“Comparison of Decision Making Influences and Decision Outcomes of Individuals Considering and Undergoing Cancer Predisposing Genetic Testing” 2005 - 2006

Alberta Children’s Hospital Research Foundation 
 “Familial Aggregation in Children with Developmental Coordinator Disorder (DCD)” 2006 - 2008




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