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Marie E. Faughnan

MD, MSc

Scientist

Email: Marie.Faughnan@unityhealth.to
Tel: 416-864-5412

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. Ressler, AK, Debose-Scarlett, E, Fuenzalida, A, Lightle, R, Weinsheimer, S, Faughnan, ME et al.. Recurrent somatic copy number alterations in resected cerebral cavernous malformations. Hum Genomics. 2025; :. doi: 10.1186/s40246-025-00886-8. PubMed PMID:41366709 .
  2. Iyer, VN, Vethanayagam, D, Al-Samkari, H, Beslow, LA, Chakinala, M, Decker, JE et al.. Letter to the editor. Eur Arch Otorhinolaryngol. 2025; :. doi: 10.1007/s00405-025-09795-x. PubMed PMID:41243020 .
  3. Scott, G, Agundiz, A, Nelson, J, Hetts, S, Clancy, M, Kim, H et al.. Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care. Orphanet J Rare Dis. 2025;20 (1):461. doi: 10.1186/s13023-025-03883-1. PubMed PMID:40877917 PubMed Central PMC12392467.
  4. Koskimäki, J, Jhaveri, A, Srinath, A, Bindal, A, Vera Cruz, D, Priyanka Yeradoddi, G et al.. Common and distinct circulating microRNAs in four neurovascular disorders. Biochem Biophys Rep. 2025;43 :102189. doi: 10.1016/j.bbrep.2025.102189. PubMed PMID:40800603 PubMed Central PMC12341739.
  5. Al-Samkari, H, Kasthuri, RS, Mager, HJ, Zhou, JY, Serra, MM, Samuelson-Bannow, BT et al.. Standardization of Terminology, Definitions, and Outcome Criteria for Bleeding in Hereditary Hemorrhagic Telangiectasia: International Consensus Report. Am J Hematol. 2025;100 (10):1813-1827. doi: 10.1002/ajh.70011. PubMed PMID:40662351 PubMed Central PMC12417758.
  6. DeBose-Scarlett, E, Ressler, AK, Gallione, CJ, Cantis, GS, 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. 2025;112 (4):963. doi: 10.1016/j.ajhg.2025.03.007. PubMed PMID:40090326 PubMed Central PMC12081223.
  7. Tarulli, CM, Ma, X, Chokar, K, Vozoris, NT, Clancy, MS, Faughnan, ME et al.. Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2025;20 (1):94. doi: 10.1186/s13023-025-03561-2. PubMed PMID:40025608 PubMed Central PMC11871591.
  8. 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.
  9. 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.
  10. 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 .
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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