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Jamie McDonald, M.S., L.G.C.

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Clinical Details

Phone Number Clinical Office Address


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.

Board Certification and Academic Information

Academic Departments Pathology - Assistant Professor (Clinical)
Radiology and Imaging Sciences - Midlevel
Academic Divisions Clinical Pathology
Clinical Radiology
Board Certification American Board of Genetic Counseling
American Board of Medical Genetics

Academic Profile

Research Interests

  • Telangiectasia, Hereditary Hemorrhagic
  • Vascular Dysplasia
  • Molecular Diagnostics

Board Certification and Academic Information

Academic Departments Pathology - Assistant Professor (Clinical)
Radiology and Imaging Sciences - Midlevel
Academic Divisions Clinical Pathology
Clinical Radiology
Board Certification American Board of Genetic Counseling
American Board of Medical Genetics

Academic Office Locations

Academic Office Phone Number Academic Office Address
(801) 585-9702 School of Medicine
Hereditary Hemorrhagic Telangiectasia Clinic
30 N 1900 E
Salt Lake City, UT 84132

Academic Bio

Primary areas of research involve the natural history of hereditary hemorrhagic telangiectases, genotype/phenotype coorelations and molecular diagnostics of hereditary hemorrhagic telangiectases and other vascular malformation disorders. Scholarly activities include multiple publications in peer reviewed journals, including invited articles, and a peer reviewed online resource.

I am currently a Center PI for a multi-center study funded by the NIH Office of Rare Disorders regarding modifiers (genetic and otherwise) of cerebral hemorrhage risk in patients with HHT. I am a co-investigator of another multi-center trial to evaluate several topical treatments for epistaxis in HHT patients, funded by the HHT Foundation International. I am also a PI or co-investigator of several other ongoing, IRB approved studies. They include “Clinical Findings, Correlations and Outcomes in HHT and Related Vascular Disorders” (PI) and “Molecular Characterization in HHT and Other Vascular Malformation Syndromes” and “Evaluation of Variants of Uncertain Clinical Significance by Family Correlation Studies and Reporting of Genetic Variants with Associated Phenotypes” (Co-Investigator) and are the source of ongoing publications.


Education History

Type School Degree
Graduate Training University of California - Berkeley
Genetic Counseling
Undergraduate Carleton College
Biology, Concentration: Science, Technology & Public Policy


Selected Provider Publications

Journal Article

  1. Higa LA, McDonald J, Himes DO, Rothwell E (2016). Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis. J Community Genet, 7(1), 81-89.
  2. 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.
  3. 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.
  4. 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.
  5. Cheng KH, Mariampillai A, Lee KK, Vuong B, Luk TW, Ramjist J, Curtis A, Jakubovic H, Kertes P, Letarte M, Faughnan ME, Yang VX, Brain Vascular Malformation Consortium HHT Investigator Group (2014). Histogram flow mapping with optical coherence tomography for in vivo skin angiography of hereditary hemorrhagic telangiectasia. J Biomed Opt, 19(8), 086015.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. McDonald J, Bayrak-Toydemir P, Pyeritz RE (2011). Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med, 13(7), 607-16.
  13. 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.
  14. 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.
  15. 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).
  16. 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.
  17. 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.
  18. 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.
  19. Ellington L, Baty, BJ, McDonald J, Venne V, Musters A, Roter D, Dudley WN, Croyle R (2006). Exploring Genetic Counseling Communication Patterns: The Role of Teaching and Counseling Approaches. Journal of Genetic Counseling. J Genet Couns, 15(3), 179-189.
  20. 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.
  21. 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.
  22. 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.
  23. 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. Pediatrics, 109(1).
  24. 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.


  1. 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. [Review]. Frontiers in Genetics, 6, 1.
  2. McDonald J, Bayrak-Toydemir P (2005). Hereditary Hemorrhagic Telangiectasia- Invited Editorial and Perspective. [Review]. Haematologica, 90(6), 728-732.
  3. 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. [Review]. Genet Med, 6(4), 175-91.

Book Chapter

  1. McDonald J, Guttmacher A (2002). HHT mini-chapter. 2002. In Guide to Rare Disorders. Lippincott, Williams & Wilkins.
  2. McDonald J, Pyeritz RE (1993). Hereditary Hemorrhagic TelangiectasiaBTI - GeneReviews(R). Seattle (WA).

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:

Clinical Trials

Clinical Trials

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