Sherin Shaaban
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Sherin Shaaban, MD, PhD, MSci, FACMG

Languages spoken: English

  • Dr. Shaaban is an Assistant Professor of Pathology at the University of Utah School of Medicine, and the medical director of pharmacogenetics and molecular genetics at ARUP Laboratories. She graduated from Mansoura University Medical School in Egypt, then went on to obtain a PhD in Human Genetics at the Graduate School of Medicine Dentistry and Pharmaceutical Science at Okayama University in Japan. After a genetics research fellowship at Harvard Medical School and Boston Children's Hospital, she finished a clinical molecular genetics fellowship at the department of Genetics and Genomics of Icahn School of Medicine at Mount Sinai, NY.

    Dr. Shaaban is board certified by the American Board of Medical Genetics and Genomics and is a fellow of the American College of Medical Genetics and Genomics.     Her research and academic interests focus on molecular genetic testing for rare inherited diseases and the validation and implementation of pharmacogenetics testing and personalized genomics.

    Board Certification

    American Board of Medical Genetics and Genomics

  • Dr. Shaaban is an Assistant Professor of Pathology at the University of Utah School of Medicine, and the medical director of pharmacogenetics and molecular genetics at ARUP Laboratories. She graduated from Mansoura University Medical School in Egypt, then went on to obtain a PhD in Human Genetics at the Graduate School of Medicine Dentistry and Pharmaceutical Science at Okayama University in Japan. After a genetics research fellowship at Harvard Medical School and Boston Children's Hospital, she finished a clinical molecular genetics fellowship at the department of Genetics and Genomics of Icahn School of Medicine at Mount Sinai, NY.

    Dr. Shaaban is board certified by the American Board of Medical Genetics and Genomics and is a fellow of the American College of Medical Genetics and Genomics.     Her research and academic interests focus on molecular genetic testing for rare inherited diseases and the validation and implementation of pharmacogenetics testing and personalized genomics.

    Board Certification and Academic Information

    Academic Departments Pathology -Primary
    Board Certification
    American Board of Medical Genetics and Genomics

    Selected Publications

    Journal Article

    1. Whitman MC, Di Gioia SA, Chan WM, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M, Pato C, Shaaban S, Staffieri S, MacKinnon S, Maconachie GDE, Elder JE, Traboulsi EI, Gottlob I, Mackey DA, Hunter DG, Engle EC, Strabismus Genetics Research Consortium (2020). Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci, 61(10), 22. (Read full article)
    2. Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW, Strabismus Genetics Research Consortium, Hunter DG, Mackey DA, Engle EC (2018). Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci, 59(10), 4054-4064. (Read full article)
    3. Di Gioia SA, Shaaban S, Tysz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC (2018). Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet, 103(1), 115-124. (Read full article)
    4. Shaaban S, Duzcan F, Yildirim C, Chan WM, Andrews C, Akarsu NA, Engle EC (2013). Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clin Genet, 85(6), 562-7. (Read full article)
    5. Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC (2013). RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol, 131(12), 1532-40. (Read full article)
    6. Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW (2012). HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet, 91(1), 171-9. (Read full article)
    7. Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC (2011). Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci, 52(9), 6321-8. (Read full article)
    8. Shaaban S, Matsuo T, Strauch K, Ohtsuki H (2009). Investigation of parent-of-origin effect in comitant strabismus using MOD score analysis. Mol Vis, 15, 1351-8. (Read full article)
    9. Shaaban S, Matsuo T, Fujiwara H, Itoshima E, Furuse T, Hasebe S, Zhang Q, Ott J, Ohtsuki H (2008). Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus. Invest Ophthalmol Vis Sci, 50(2), 654-61. (Read full article)
    10. Shaaban S, El-Lakkany AR, Swelam A, Anwar G (2010). Low vision AIDS provision for visually impaired egyptian patients - a clinical outcome. Middle East Afr J Ophthalmol, 16(1), 29-34. (Read full article)