A person with medium brown hair smiling, wearing a black jacket, in a well-lit space with green plants in the background.

Jamie McDonald, MS, LGC

Languages spoken: English

Academic Information

Departments Primary - Pathology

Board Certification

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

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

Undergraduate Carleton College
 BA
Graduate Training University of California - Berkeley
 MS

Selected Publications

Journal Article

  1. 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.
  2. Wooderchak-Donahue WL, McDonald J, O'Fallon 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 (2013). BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. American journal of human genetics, 93(3), 530-7.
  3. McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward K (2000). Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. American journal of medical genetics, 93(4), 320-7.
  4. 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 (2020). Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Annals of internal medicine, 173(12), 989-1001.
  5. Soemedi R, Cygan KJ, Rhine CL, Wang J, Bulacan C, Yang J, Bayrak-Toydemir P, McDonald J, Fairbrother W (2017). Pathogenic variants that alter protein code often disrupt splicing. Nature genetics, 49(6), 848-855.
  6. McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir (2011). Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clinical genetics, 79(4), 335-44.
  7. Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon (2008). Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. Experimental and molecular pathology, 85(1), 45-9.
  8. Gonzalez CD, Cipriano SD, Topham CA, Stevenson DA, Whitehead KJ, Vanderhooft S, Presson AP, McDonald (2019). Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study. Journal of the American Academy of Dermatology, 81(4), 950-955.
  9. Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan ME, Letarte (2003). Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. Journal of medical genetics, 40(7), 494-502.
  10. 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 (2011). International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of medical genetics, 48(2), 73-87.
  11. Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, Bayrak-Toydemir (2011). Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients. Journal of medical genetics, 48(5), 358-60.
  12. Calhoun A, Bollo R, Garber S, McDonald J, Stevenson D, Hung I, Brockmeyer D, Walker (2012). Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. Journal of neurosurgery, 9, 654-659.
  13. McDonald JD, Chong BW, Lewine JD, Jones G, Burr RB, McDonald PR, Koehler SB, Tsuruda J, Orrison WW, Heilbrun M (1999). Integration of preoperative and intraoperative functional brain mapping in a frameless stereotactic environment for lesions near eloquent cortex. Technical note. Journal of neurosurgery, 90(3), 591-8.
  14. Hunter BN, Timmins BH, McDonald J, Whitehead KJ, Ward PD, Wilson K (2015). The severity and progression of epistaxis in hereditary hemorrhagic telangiectasia (HHT)1 vs. HHT2. The Laryngoscope,
  15. Klostranec JM, Chen L, Mathur S, McDonald J, Faughnan ME, Ratjen F, Krings (2019). A theory for polymicrogyria and brain arteriovenous malformations in HHT. Neurology, 92(1), 34-42.
  16. Kim H, Nelson J, Krings T, terBrugge KG, McCulloch CE, Lawton MT, Young WL, Faughnan ME, Brain Vascular Malformation Consortium HHT Investigator Grou (2015). Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke, 46(5), 1362-4.
  17. Ruiz-Llorente L, McDonald J*, Wooderchak-Donahue W, Briggs E, Chesnutt M, Bayrak-Toydemir P, Bernabeu (2019). Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia. Journal of human genetics, 64(4), 333-339.
  18. Eli I, Gamboa NT, Joyce EJ, Park MS, Taussky P, Schmidt RH, Couldwell WT, McDonald J, Whitehead KJ, Kalani MY (2018). Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations. Journal of clinical neuroscience, 50, 51-57.
  19. 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 V (2014). Histogram flow mapping with optical coherence tomography for in vivo skin angiography of hereditary hemorrhagic telangiectasia. Journal of biomedical optics, 19(8), 086015.
  20. Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir (2007). Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. The Journal of molecular diagnostics, 9(2), 258-65.
  21. McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir (2009). Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. The Journal of molecular diagnostics, 11(6), 569-75.
  22. Bayrak-Toydemir P, Mao R, Lewin S, McDonald (2004). Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genetics in medicine, 6(4), 175-91.
  23. McDonald J, Bayrak-Toydemir P, Pyeritz R (2011). Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genetics in medicine, 13(7), 607-16.
  24. Wain KE, Ellingson MS, McDonald J, Gammon A, Roberts M, Pichurin P, Winship I, Riegert-Johnson DL, Weitzel JN, Lindor N (2014). Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Genetics in medicine, 16(8), 588-93.
  25. Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, O'Fallon 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 (2019). Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?. Genetics in medicine, 21(9), 2007-2014.
  26. McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead (2020). Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2). Genetics in medicine, 22(7), 1201-1205.
  27. Ellington L, Baty BJ, McDonald J, Venne V, Musters A, Roter D, Dudley W, Croyle R (2006). Exploring genetic counseling communication patterns: the role of teaching and counseling approaches. Journal of genetic counseling, 15(3), 179-89.
  28. Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao (2006). Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. American journal of medical genetics. Part A, 140(5), 463-70.
  29. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao (2006). A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. American journal of medical genetics. Part A, 140(20), 2155-62.
  30. 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 (2003). Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. American journal of medical genetics. Part A, 118A(3), 201-9.
  31. Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir (2011). 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. Orphanet journal of rare diseases, 6, 85.
  32. Latino GA, Kim H, Nelson J, Pawlikowska L, Young W, Faughnan ME, Brain Vascular Malformation Consortium HHT Investigator Grou (2014). Severity score for hereditary hemorrhagic telangiectasia. Orphanet journal of rare diseases, 9, 188.
  33. McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir (2015). Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Frontiers in genetics, 6, 1.
  34. Wooderchak W, Spencer Z, Crockett D, McDonald J, Bayrak-Toydemir (2010). Repository of SMAD4 Mutations: Reference for Genotype/Phenotype Correlation. Journal of data mining in genomics & proteomics, 1(1),
  35. 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. Journal of clinical medicine, 9(9),
  36. Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte (2020). Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. Journal of clinical medicine, 9(11),

Review

  1. McDonald J, Bayrak-Toydemir (2005). Hereditary Hemorrhagic Telangiectasia- Invited Editorial and Perspective. Haematologica, 90(6), 728-732.
  2. McDonald J, Pyeritz RE, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya (2017). Hereditary Hemorrhagic Telangiectasia.

Book Chapter

  1. McDonald J, Guttmacher (2002). HHT mini-chapter. 2002.

Case Report

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

Video/Film/CD/Web/Podcast

  1. McDonald J, Pyeritz (2014). HHT Profile (an NIH online resource for medical professionals on genetics disorders).