Marie E. Faughnan


Associate Scientist, Li Ka Shing Knowledge Institute


Dr. Marie E. Faughnan is a respirologist, clinical epidemiologist and clinician investigator at St. Michael’s Hospital and the Li Ka Shing Knowledge Institute. She is an associate professor at the University of Toronto. Dr. Faughnan’s research is focused 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, the Scientific Director for CureHHT and she led the development and publication of the first International HHT Guidelines.

Recent Publications

  1. 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 .
  2. 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 .
  3. Whitehead, KJ, Sautter, NB, McWilliams, JP, Chakinala, MM, Merlo, CA, Johnson, MH et al.. Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. JAMA. 2016;316 (9):943-51. doi: 10.1001/jama.2016.11724. PubMed PMID:27599329 .
  4. Zhang, R, Han, Z, Degos, V, Shen, F, Choi, EJ, Sun, Z et al.. Persistent infiltration and pro-inflammatory differentiation of monocytes cause unresolved inflammation in brain arteriovenous malformation. Angiogenesis. 2016;19 (4):451-461. doi: 10.1007/s10456-016-9519-4. PubMed PMID:27325285 PubMed Central PMC5029790.
  5. de Gussem, EM, Edwards, CP, Hosman, AE, Westermann, CJ, Snijder, RJ, Faughnan, ME et al.. Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia. Orphanet J Rare Dis. 2016;11 :46. doi: 10.1186/s13023-016-0427-x. PubMed PMID:27102204 PubMed Central PMC4841052.
  6. Bélanger, C, Chartrand-Lefebvre, C, Soulez, G, Faughnan, ME, Tahir, MR, Giroux, MF et al.. Pulmonary arteriovenous malformation (PAVM) reperfusion after percutaneous embolization: Sensitivity and specificity of non-enhanced CT. Eur J Radiol. 2016;85 (1):150-157. doi: 10.1016/j.ejrad.2015.11.014. PubMed PMID:26724660 .
  7. Singer, LG, Chowdhury, NA, Faughnan, ME, Granton, J, Keshavjee, S, Marras, TK et al.. Effects of Recipient Age and Diagnosis on Health-related Quality-of-Life Benefit of Lung Transplantation. Am. J. Respir. Crit. Care Med. 2015;192 (8):965-73. doi: 10.1164/rccm.201501-0126OC. PubMed PMID:26131729 .
  8. Rozenberg, D, Leek, E, Faughnan, ME. Prevalence and nature of dyspnea in patients with hereditary hemorrhagic telangiectasia (HHT). Respir Med. 2015;109 (6):768-77. doi: 10.1016/j.rmed.2015.04.003. PubMed PMID:25940942 .
  9. Kim, H, Nelson, J, Krings, T, terBrugge, KG, McCulloch, CE, Lawton, MT et al.. Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke. 2015;46 (5):1362-4. doi: 10.1161/STROKEAHA.114.007367. PubMed PMID:25858236 PubMed Central PMC4415515.
  10. Pawlikowska, L, Nelson, J, Guo, DE, McCulloch, CE, Lawton, MT, Young, WL et al.. The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. Am. J. Med. Genet. A. 2015;167 (6):1262-7. doi: 10.1002/ajmg.a.36936. PubMed PMID:25847705 PubMed Central PMC4449292.
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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