Isabelle De Bie, MD, PhD, FRCPC, FCCMG, Medical Geneticist and Clinical Molecular Geneticist
I love to fly kites, particularly the big ones that can drag you over the water (kitesurf).
Hospital information
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
Education
B.Sc. Chemistry, Specialization Biochemistry, Concordia University, Institute for Co-operative Education, Montréal, QC, Canada
Ph.D. Experimental Medicine, McGill University, Montréal, QC, Canada
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
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 (www.gsontario.ca)
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
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
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: https://doi.org/10.1007/s10048-022-00697-2.
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: https://jhsmr.org/index.php/jhsmr/article/view/774/823
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. https://www.telequebec.tv/documentaire/ni-fille-ni-garcon
Entrevue pour La Presse Plus : « Devrait-on analyser l’ADN du fœtus» Edition du 22 décembre 2015. http://plus.lapresse.ca/screens/08a8df21-c5d4-47c1-98e3-01b567301652%7CNRjDQZ8UodiA.html
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. https://www.mcgill.ca/channels/news/mcgill-scientists-answer-questions-quirks-quarks-roadshow-174407
Contact information
Referring physicians can fax their consultation request to 514-412-4296 or send it to [email protected].