Isabelle De Bie, MD, PhD, FRCPC, FCCMG, Medical Geneticist and Clinical Molecular Geneticist

Medical Genetics
Fun fact about me 

I love to fly kites, particularly the big ones that can drag you over the water (kitesurf).

I love working with children and their families because 
It is a privilege be able to, through my work, become part of the stories of so many families. Each encounter leads to sharing, each smile or laughter from a child is a gift, each bit of relief I can provide is a victory.

Hospital information

Academic appointments 

Medical Geneticist with expertise in dysmorphology, congenital anomalies and foetal anomalies

Head, Prenatal Diagnosis Program, Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre

Clinical Director, Core Molecular Diagnostic Laboratory, Department of Laboratory Medicine, McGill University Health Centre



B.Sc. Chemistry, Specialization Biochemistry, Concordia University, Institute for Co-operative Education, Montréal, QC, Canada

Ph.D. Experimental Medicine, McGill University, Montréal, QC, Canada

Medical Degree 

M.D., Université Laval, Québec, QC, Canada



Royal College of Physicians and Surgeons of Canada Specialty training, Medical Genetics, Université de Montréal, Montréal, QC, Canada


Molecular Genetics Fellowship training, Canadian College of Medical Geneticists, McGill University Health Centre, Montréal, QC, Canada


Research interests 

2021- Local investigator, Silent Genomes Project: Precision Diagnosis for Indigenous Families with Genetic Conditions

2021- Collaborator, Care4Rare Canada C4R-Solve, Solving the unsolved Rare Diseases.

2021- Collaborator, Genome-wide sequencing Ontario: Secondary findings impact study (

2019- Local co-investigator, McGill University Health Centre: Investigation of Genetic and Environmental Factors in Individuals with Advanced or Delayed Growth with or without Developmental Delay

Awards and distinctions 

2020 - 2022 President, Board of Directors, Canadian College of Medical Geneticists

2020 -- McGill University Health Centre Department of Specialized Medicine Clinical Impact Award; in recognition of medical or societal impact through publication, guideline development, work with policy makers or knowledge translation

Selected publications 

Mirchi A, Derksen A, Tran LT, De Bie I, Nadeau A, Lovett A, Raams A, Vermeulen W, Theil AF, Bernard G. A Cockayne-like phenotype resulting from a de novo variant in MORC2: Expanding the phenotype of MORC2-related disorders. Neurogenet Aug 03, 2022. Available at:

C. Dubucs, J. Aziza, A. Sartor, F. Heitz, A. Sevely, D. Sternberg, C. Jardel, T. Cavallé-Garrido, S. Albrecht, C. Bernard, I. De Bie, N. Chassaing. Severe antenatal hypertrophic cardiomyopathy secondary to ACAD9 related mitochondrial complex I deficiency. Molecular Syndromology · Jul 12, 2022, accepted for publication

C. Petpichetchian, R. Brown, G. Altit, K. Muchantef, I. De Bie. Hepatic Tumor as Antenatal Presentation of Costello Syndrome. Journal of Health Science and Medical Research, vol 39, no 3, 2021. ISSN 2630-0559. Available at:

G. Sillon, P. Allard, S. Drury, J.-B. Rivière, I. De Bie. The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992 2015. J. Genet. Counsel. (2020) 29(6):1173-1185

De Bie, I. Boucoiran. Investigation and Management of Prenatally Identified Microcephaly. J. Obstet Gynaecol Can. (2019) 41:855-861

I. Boucoiran, I. De Bie, V. Desilets, F. Audibert. Non Immune Hydrops In "Clinical Guidelines in Neonatalogy" (2019) L. Jain and G. Suresh, Editors. McGraw Hill · Nov 1, 2019

K. Wou K, I. De Bie, J. Carroll, J.A. Brock, WR. Douglas. Fetal Exome Sequencing on the Horizon. J. Obstet. Gynaecol. Can. (2019) 41:64-67

C. Fallet-Bianco, I. De Bie, V. Desilets, LL. Oligny. Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis. J. Obstet. Gynaecol. Can. (2018) 40:1358-1366

Participation au documentaire « Ni fille, ni garçon » : réalisation M. Tremblay (Avanti Ciné Vidéo production) traitant des conditions associées à l’intersexualité; Diffusion Télé-Québec, 28 novembre 2016.

Entrevue pour La Presse Plus : « Devrait-on analyser l’ADN du fœtus» Edition du 22 décembre 2015.

Isabelle De Bie. Are identical twins truly identical? Guest appearance on CBC Radio Program Quirks & Quarks, hosted by Bob MacDonald, Montreal, QC, Canada May 25th, 2011.