Marie E. Faughnan

MD, MSc

Scientist

Biography

Dr. Marie E. Faughnan is a Respirologist and an Associate Scientist in the Li Ka Shing Knowledge Institute of St. Michael’s Hospital. She is an Associate Professor at the University of Toronto. Dr. Faughnan is a clinical epidemiologist, with a research focus on clinical and mechanistic aspects of vascular malformations, with a specific expertise in hereditary hemorrhagic telangiectasia (HHT). Dr. Faughnan is the Director of the Toronto Hereditary Hemorrhagic Telangiectasia Centre and the Scientific Director for CureHHT. Dr. Faughnan has also led the development and publication of the first International HHT Guidelines.

Recent Publications

  1. Beslow, LA, Kim, H, Hetts, SW, Ratjen, F, Clancy, MS, Gossage, JR et al.. Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2024;19 (1):421. doi: 10.1186/s13023-024-03402-8. PubMed PMID:39522006 PubMed Central PMC11549847.
  2. Dinakaran, S, Qutaina, S, Zhao, H, Tang, Y, Wang, Z, Ruiz, S et al.. CDK6-mediated endothelial cell cycle acceleration drives arteriovenous malformations in hereditary hemorrhagic telangiectasia. Nat Cardiovasc Res. 2024;3 (11):1301-1317. doi: 10.1038/s44161-024-00550-9. PubMed PMID:39487364 PubMed Central PMC11651362.
  3. Grudzinski, A, Tse, B, Ombao, R, Faughnan, ME, Pavenski, K. Red blood cell alloimmunization in transfused patients with hereditary hemorrhagic telangiectasia: A single centre retrospective study. Transfus Apher Sci. 2024;63 (6):104019. doi: 10.1016/j.transci.2024.104019. PubMed PMID:39454475 .
  4. DeBose-Scarlett, E, Ressler, AK, Gallione, CJ, Sapisochin Cantis, G, Friday, C, Weinsheimer, S et al.. Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis. Am J Hum Genet. 2024;111 (10):2283-2298. doi: 10.1016/j.ajhg.2024.08.020. PubMed PMID:39299239 PubMed Central PMC11480799.
  5. Beslow, LA, Krings, T, Kim, H, Hetts, SW, Lawton, MT, Ratjen, F et al.. De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia. Pediatr Neurol. 2024;155 :120-125. doi: 10.1016/j.pediatrneurol.2024.03.013. PubMed PMID:38631080 PubMed Central PMC11102835.
  6. Beslow, LA, Vossough, A, Kim, H, Nelson, J, Lawton, MT, Pollak, J et al.. Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia. Childs Nerv Syst. 2024;40 (7):2101-2108. doi: 10.1007/s00381-024-06366-z. PubMed PMID:38517485 PubMed Central PMC11179972.
  7. Kilian, A, Latino, GA, White, AJ, Ratjen, F, McDonald, J, Whitehead, KJ et al.. Reply to Eker et al. Comment on "Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704". J Clin Med. 2023;12 (23):. doi: 10.3390/jcm12237462. PubMed PMID:38068512 PubMed Central PMC10706914.
  8. Cheng, HC, Faughnan, ME, terBrugge, KG, Liu, HM, Krings, T, Brain Vascular Malformation Consortium Hereditary Hemorrhagic Telangiectasia Investigator Group et al.. Prevalence and Characteristics of Intracranial Aneurysms in Hereditary Hemorrhagic Telangiectasia. AJNR Am J Neuroradiol. 2023;44 (12):1367-1372. doi: 10.3174/ajnr.A8058. PubMed PMID:38050014 PubMed Central PMC10714847.
  9. Botsford, A, Tradi, F, Loubet, A, Tantawi, S, Soulez, G, Giroux, MF et al.. Transarterial Embolization of Simple Pulmonary Arteriovenous Malformations: Long-Term Outcomes of 0.018-Inch Coils versus Vascular Plugs. J Vasc Interv Radiol. 2024;35 (3):349-360. doi: 10.1016/j.jvir.2023.11.018. PubMed PMID:38013007 .
  10. Brassil, M, Li, Y, Ko, M, Faughnan, ME, Prabhudesai, V. Pre-operative embolization of a complex systemic to pulmonary vascular malformation. BJR Case Rep. 2023;9 (5):20230056. doi: 10.1259/bjrcr.20230056. PubMed PMID:37780979 PubMed Central PMC10513012.
Search PubMed

Affiliations & Other Activities

  • Director, Pulmonary Function Laboratory, St. Michael’s Hospital
  • Director, Toronto Hereditary Hemorrhagic Telangiectasia, The Hospital for Sick Children