Genetics

  • In Reply: Familial hypercholesterolemia: Clarifications
    Nishant P. Shah, MD,FACC, Haitham M. Ahmed, MD and W. H. Wilson Tang, MD
    Cleveland Clinic Journal of Medicine June 2020, 87 (6) 320; DOI: https://doi.org/10.3949/ccjm.87c.06002

    The authors' response.

  • Familial hypercholesterolemia: Clarifications
    Taher Modarressi, MD
    Cleveland Clinic Journal of Medicine June 2020, 87 (6) 320; DOI: https://doi.org/10.3949/ccjm.87c.06001

    Comments on xanthoma vs xanthelasmas, and goal LDL-C.

  • Familial hypercholesterolemia: Detect, treat, and ask about family
    Familial hypercholesterolemia: Detect, treat, and ask about family
    Nishant P. Shah, MD, Haitham M. Ahmed, MD, MPH and W. H. Wilson Tang, MD
    Cleveland Clinic Journal of Medicine February 2020, 87 (2) 109-120; DOI: https://doi.org/10.3949/ccjm.87a.19021

    Patients can develop elevated LDL-C and atherosclerotic cardiovascular disease at a young age.

  • The search for precision
    Brian F. Mandell, MD, PhD
    Cleveland Clinic Journal of Medicine February 2020, 87 (2) 71-72; DOI: https://doi.org/10.3949/ccjm.87b.02020

    The day may come soon when we get EMR alerts if we try to prescribe certain drugs to patients with certain gene variants.

  • 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.

  • Vaping: The new wave of nicotine addiction
    Perry Dinardo, BA and Ellen S. Rome, MD, MPH
    Cleveland Clinic Journal of Medicine December 2019, 86 (12) 789-798; DOI: https://doi.org/10.3949/ccjm.86a.19118

    Despite perceptions that vaping is harmless and claims that it can aid in smoking cessation, risks are emerging.

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