Genetics

  • Pharmacogenomics: An evolving clinical tool for precision medicine
    Jennifer K. Hockings, PharmD, PhD, Amy L. Pasternak, PharmD, Angelika L. Erwin, MD, PhD, Neil T. Mason, MBA, Charis Eng, MD, PhD and J. Kevin Hicks, PharmD, PhD
    Cleveland Clinic Journal of Medicine February 2020, 87 (2) 91-99; DOI: https://doi.org/10.3949/ccjm.87a.19073

    More than 90% of patients are thought to carry at least 1 genetic variant that should prompt a change in dosing or medication.

  • Sickle cell disease: A primary care update
    Grace Onimoe, MD and Seth Rotz, MD
    Cleveland Clinic Journal of Medicine January 2020, 87 (1) 19-27; DOI: https://doi.org/10.3949/ccjm.87a.18051

    Survival has improved, but patients still face multiorgan damage, chronic anemia, and debilitating pain crises.

  • Gene therapy in sickle cell disease: Possible utility and impact
    Susanna A. Curtis, MD, MS and Niketa C. Shah, MD
    Cleveland Clinic Journal of Medicine January 2020, 87 (1) 28-29; DOI: https://doi.org/10.3949/ccjm.87a.19124

    CRISPR-Cas9 makes it possible to edit the patient’s own genes, but questions remain.

  • Cardio-obstetrics: Recognizing and managing cardiovascular complications of pregnancy
    Cardio-obstetrics: Recognizing and managing cardiovascular complications of pregnancy
    Kayle S. Shapero, MD, PhD, Nihar R. Desai, MD, MPH, Robert W. Elder, MD, Heather S. Lipkind, MD, Josephine C. Chou, MD, MS and Erica S. Spatz, MD, MHS
    Cleveland Clinic Journal of Medicine January 2020, 87 (1) 43-52; DOI: https://doi.org/10.3949/ccjm.87a.18137

    Pregnancy can exacerbate known cardiovascular disorders and unmask previously unrecognized problems.

  • Modifying genetic diseases: Promises to be realized?
    Brian F. Mandell, MD, PhD
    Cleveland Clinic Journal of Medicine January 2020, 87 (1) 7-8; DOI: https://doi.org/10.3949/ccjm.87b.01020

    Genetic engineering offers hope to patients and families who previously had little.

  • Pediatric cholestatic liver disease: Successful transition of care
    Pediatric cholestatic liver disease: Successful transition of care
    Praveen Kumar Conjeevaram Selvakumar, MD, Vera Hupertz, MD, Naveen Mittal, MD, Kris V. Kowdley, MD and Naim Alkhouri, MD
    Cleveland Clinic Journal of Medicine July 2019, 86 (7) 454-464; DOI: https://doi.org/10.3949/ccjm.86a.18140

    Many more children with liver disease are surviving into adulthood and transitioning to adult care.

  • Laboratory tests in rheumatology: A rational approach
    Ernest Suresh, MD, FRCP (LONDON)
    Cleveland Clinic Journal of Medicine March 2019, 86 (3) 198-210; DOI: https://doi.org/10.3949/ccjm.86a.18076

    Negative results are not always reassuring, and false-positive results pose risks.

  • When stroke runs in the family
    Nellowe Candelario, MD and Kevin Bryan Lo, MD
    Cleveland Clinic Journal of Medicine October 2018, 85 (10) 743-744; DOI: https://doi.org/10.3949/ccjm.85a.18055

    CADASIL—cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy—is due to a mutation in NOTCH3.

  • Bicuspid aortic valve: Basics and beyond
    Shailee Y. Shah, MD, Andrew Higgins, MD and Milind Y. Desai, MD
    Cleveland Clinic Journal of Medicine October 2018, 85 (10) 779-784; DOI: https://doi.org/10.3949/ccjm.85a.17069

    What further testing does this 34-year-old patient need? Can he play sports? Does his newborn son need evaluation?

  • Aortic aneurysm: Fluoroquinolones, genetic counseling, June 2018
    Houriya Ayoubieh, MD and Gretchen MacCarrick, MS, CGC
    Cleveland Clinic Journal of Medicine September 2018, 85 (9) 661-662; DOI: https://doi.org/10.3949/ccjm.85c.09002

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