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Jamie McDonald

Jamie McDonald, MS, LGC

Languages spoken: English

Academic Information

Departments Emeritus - Pathology


Academic Office Information

Board Certification

  • American Board of Genetic Counseling
  • American Board of Medical Genetics

Research Interests

  • Telangiectasia, Hereditary Hemorrhagic
  • Molecular Diagnostics
  • Vascular Dysplasia

Jamie is an Assistant Professor in the Department of Pathology. She received an undergraduate degree from Carleton College in biology, and a master's degree in Genetic Counseling at the University of California at Berkeley in 1986. She is certified as a Genetic Counselor by the American Board of Medical Genetics and American Board of Genetic Counseling.

Jamie came to the University of Utah Medical Center in 1988 and worked in the Departments of Pediatrics, Obstetrics and Gynecology and the Huntsman Cancer Institute's Hereditary Cancer Clinics before focusing on Hereditary Hemorrhagic Telangiectasia (HHT). In 1995 she helped establish the multidisciplinary University of Utah HHT Center which she serves as a co-director. Jamie worked to establish the HHT Clinic at the University of Utah Medical after becoming convinced through personal experience that families with this relatively common genetic disorder needed a center of expert, multidisciplinary care in the western states. Jamie, her two children, and many other family members have HHT.

Jamie has spearheaded clinical and laboratory HHT research at the University of Utah and published multiple articles on HHT. She has also served on the HHT Foundation International Board of Directors and on the HHT Foundation International Medical and Scientific Advisory Board for many years.

Education History

Graduate Training University of California - Berkeley
Carleton College

Selected Publications

Journal Article

  1. Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M (2020). Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. J Clin Med, 9(11).
  2. Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R (2020). Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med, 173(12), 989-1001.
  3. Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME, the Brain Vascular Malformation Consortium HHT Investigator Group (2020). Genotype-Phenotype Correlations in Children with HHT. J Clin Med, 9(9).
  4. McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K (2020). Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2). Genet Med, 22(7), 1201-1205.
  5. Gonzalez CD, Cipriano SD, Topham CA, Stevenson DA, Whitehead KJ, Vanderhooft S, Presson AP, McDonald J (2019). Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study. J Am Acad Dermatol, 81(4), 950-955.
  6. Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, OFallon B, Velinder M, Farrell A, Shen W, Bedoukian E, Skrabann CM, Antaya RJ, Henderson K, Pollak J, Treat J, Day R, Jacher JE, Hannibal M, Bontempo K, Marth G, Bayrak-Toydemir P, McDonald J (2019). Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? Genet Med, 21(9), 2007-2014.
  7. Ruiz-Llorente L, McDonald J, Wooderchak-Donahue W, Briggs E, Chesnutt M, Bayrak-Toydemir P, Bernabeu C (2019). Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia. J Hum Genet, 64(4), 333-339.
  8. Klostranec JM, Chen L, Mathur S, McDonald J, Faughnan ME, Ratjen F, Krings T (2018). A theory for polymicrogyria and brain arteriovenous malformations in HHT. Neurology, 92(1), 34-42.
  9. Eli I, Gamboa NT, Joyce EJ, Park MS, Taussky P, Schmidt RH, Couldwell WT, McDonald J, Whitehead KJ, Kalani MYS (2018). Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations. J Clin Neurosci, 50, 51-57.
  10. Soemedi R, Cygan KJ, Rhine CL, Wang J, Bulacan C, Yang J, Bayrak-Toydemir P, McDonald J, Fairbrother WG (2017). Pathogenic variants that alter protein code often disrupt splicing. Nat Genet, 49(6), 848-855.
  11. Hunter BN, Timmins BH, McDonald J, Whitehead KJ, Ward PD, Wilson KF (2015). The severity and progression of epistaxis in hereditary hemorrhagic telangiectasia (HHT)1 vs. HHT2. Laryngoscope.
  12. Krings T, Kim H, Power S, Nelson J, Faughnan ME, Young WL, terBrugge KG, Brain Vascular Malformation Consortium HHT Investigator Group (2015). Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations. AJNR Am J Neuroradiol, 36(5), 863-70.
  13. Kim H, Nelson J, Krings T, terBrugge KG, McCulloch CE, Lawton MT, Young WL, Faughnan ME, Brain Vascular Malformation Consortium HHT Investigator Group (2015). Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke, 46(5), 1362-4.
  14. McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P (2015). Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet, 6, 1.
  15. Latino GA, Kim H, Nelson J, Pawlikowska L, Young W, Faughnan ME, Brain Vascular Malformation Consortium HHT Investigator Group (2014). Severity score for hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis, 9, 188.
  16. Wain KE, Ellingson MS, McDonald J, Gammon A, Roberts M, Pichurin P, Winship I, Riegert-Johnson DL, Weitzel JN, Lindor NM (2014). Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Genet Med, 16(8), 588-93.
  17. Cheng KH, Mariampillai A, Lee KK, Vuong B, Luk TW, Ramjist J, Curtis A, Jakubovic H, Kertes P, Letarte M, Faughnan ME, Brain Vascular Malformation Consortium HHT Investigator Group, Yang VX (2014). Histogram flow mapping with optical coherence tomography for in vivo skin angiography of hereditary hemorrhagic telangiectasia. J Biomed Opt, 19(8), 086015.
  18. Wooderchak-Donahue WL, McDonald J, OFallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fulop GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P (2013). BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am J Hum Genet, 93(3), 530-7.
  19. Calhoun A, Bollo R, Garber S, McDonald J, Stevenson D, Hung I, Brockmeyer D, Walker H (2012). Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. J Neurosurg, 9, 654-659.
  20. Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P (2011). 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis, 6, 85.
  21. McDonald J, Bayrak-Toydemir P, Pyeritz RE (2011). Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med, 13(7), 607-16.
  22. Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, Bayrak-Toydemir P (2011). Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients. J Med Genet, 48(5), 358-60.
  23. McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P (2011). Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet, 79(4), 335-44.
  24. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R (2011). International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet, 48(2), 73-87.
  25. Wooderchak W, Spencer Z, Crockett D, McDonald J, Bayrak-Toydemir P (2010). Repository of SMAD4 Mutations: Reference for Genotype/Phenotype Correlation. J Data Mining Genomics Proteomics, 1(1).
  26. McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir P (2009). Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. J Mol Diagn, 11(6), 569-75.
  27. Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E (2008). Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. Exp Mol Pathol, 85(1), 45-9.
  28. Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P (2007). Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn, 9(2), 258-65.
  29. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R (2006). A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A, 140(20), 2155-62.
  30. Ellington L, Baty BJ, McDonald J, Venne V, Musters A, Roter D, Dudley W, Croyle RT (2006). Exploring genetic counseling communication patterns: the role of teaching and counseling approaches. J Genet Couns, 15(3), 179-89.
  31. Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R (2006). Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A, 140(5), 463-70.
  32. Bayrak-Toydemir P, Mao R, Lewin S, McDonald J (2004). Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genet Med, 6(4), 175-91.
  33. Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan ME, Letarte M (2003). Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet, 40(7), 494-502.
  34. Botkin JR, Smith KR, Croyle RT, Baty BJ, Wylie JE, Dutson D, Chan A, Hamann HA, Lerman C, McDonald J, Venne V, Ward JH, Lyon E (2003). Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A, 118A(3), 201-9.
  35. McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ (2000). Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. Am J Med Genet, 93(4), 320-7.
  36. McDonald JD, Chong BW, Lewine JD, Jones G, Burr RB, McDonald PR, Koehler SB, Tsuruda J, Orrison WW, Heilbrun MP (1999). Integration of preoperative and intraoperative functional brain mapping in a frameless stereotactic environment for lesions near eloquent cortex. Technical note. J Neurosurg, 90(3), 591-8.


  1. McDonald J, Pyeritz RE, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (1993). Hereditary Hemorrhagic Telangiectasia. [Review].
  2. McDonald J, Bayrak-Toydemir P (2005). Hereditary Hemorrhagic Telangiectasia- Invited Editorial and Perspective. [Review]. Haematologica, 90(6), 728-732.

Book Chapter

  1. McDonald J, Guttmacher A (2002). HHT mini-chapter. 2002. In Guide to Rare Disorders. Lippincott, Williams & Wilkins.

Case Report

  1. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M (2002). Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics, 109(1), E12.


  1. McDonald J, Pyeritz R (2003, 2005, 2009, 2012, 2014, 2017). HHT Profile (an NIH online resource for medical professionals on genetics disorders) [Web]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available: