Marie E. Faughnan


Associate Scientist, Li Ka Shing Knowledge Institute


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. Klostranec, JM, Chen, L, Mathur, S, McDonald, J, Faughnan, ME, Ratjen, F et al.. A theory for polymicrogyria and brain arteriovenous malformations in HHT. Neurology. 2019;92 (1):34-42. doi: 10.1212/WNL.0000000000006686. PubMed PMID:30584075 .
  2. Cannavicci, A, Zhang, Q, Dai, SC, Faughnan, ME, Kutryk, M. Decreased Levels of MicroRNAs-28-5p, -361-3p and Increased Insulin-Like Growth Factor 1 mRNA Levels in Mononuclear Cells from Hereditary Hemorrhagic Telangiectasia Patients. Can. J. Physiol. Pharmacol. 2018; :. doi: 10.1139/cjpp-2018-0508. PubMed PMID:30512964 .
  3. Faughnan, ME, Gossage, JR, Chakinala, MM, Oh, SP, Kasthuri, R, Hughes, CCW et al.. Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia. Angiogenesis. 2018; :. doi: 10.1007/s10456-018-9646-1. PubMed PMID:30191360 .
  4. Pawlikowska, L, Nelson, J, Guo, DE, McCulloch, CE, Lawton, MT, Kim, H et al.. Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. Mol Genet Genomic Med. 2018;6 (3):350-356. doi: 10.1002/mgg3.377. PubMed PMID:29932521 PubMed Central PMC6014448.
  5. Kroon, S, Snijder, RJ, Faughnan, ME, Mager, HJ. Systematic screening in hereditary hemorrhagic telangiectasia: a review. Curr Opin Pulm Med. 2018;24 (3):260-268. doi: 10.1097/MCP.0000000000000472. PubMed PMID:29470256 .
  6. Meybodi, AT, Kim, H, Nelson, J, Hetts, SW, Krings, T, terBrugge, KG et al.. Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. Neurosurgery. 2018;82 (1):35-47. doi: 10.1093/neuros/nyx168. PubMed PMID:28973426 PubMed Central PMC5732039.
  7. Martin, JL, Faughnan, ME, Prabhudesai, V. Antithrombotic Use Predicts Recanalization of Embolized Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. Can Assoc Radiol J. 2017;68 (4):463-467. doi: 10.1016/j.carj.2017.05.001. PubMed PMID:28927739 .
  8. Vorselaars, VMM, Diederik, A, Prabhudesai, V, Velthuis, S, Vos, JA, Snijder, RJ et al.. SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia. Int. J. Cardiol. 2017;245 :114-118. doi: 10.1016/j.ijcard.2017.06.059. PubMed PMID:28874282 .
  9. Kasthuri, RS, Montifar, M, Nelson, J, Kim, H, Lawton, MT, Faughnan, ME et al.. Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. Am. J. Hematol. 2017; :. doi: 10.1002/ajh.24832. PubMed PMID:28639385 PubMed Central PMC5997494.
  10. Abrahamyan, L, Feldman, BM, Tomlinson, G, Faughnan, ME, Johnson, SR, Diamond, IR et al.. Alternative designs for clinical trials in rare diseases. Am J Med Genet C Semin Med Genet. 2016;172 (4):313-331. doi: 10.1002/ajmg.c.31533. PubMed PMID:27862920 .
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Affiliations & Other Activities

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