Browsing by Subject "medical genetics"

Now showing 1 - 3 of 3
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    Evidence and Expertise in Genetic Nomenclatures
    (Wiley, 2019-12) Halverson, Colin Michael Egenberger; Medicine, School of Medicine
    Clinicians and laboratory scientists use a number of different systems for naming genetic mutations in their daily activities. Based on participant observation at an American academic medical center and interviews with a variety of actors at American hospitals, this paper analyzes the use of these systems. I argue that their distribution corresponds to differences in professional regimes of responsibility. An examination of these often quite complex linguistic items reveals a correlation between the type of components (evidential versus epistemic modifiers) that constitute the names and the presupposed professional role of their intended audiences.
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    Medical genetics and epigenetics of telomerase
    (Wiley, 2011-03) Koziel, Jillian E.; Fox, Melanie J.; Steding, Catherine E.; Sprouse, Alyssa A.; Herbert, Brittney-Shea; Department of Medical & Molecular Genetics, IU School of Medicine
    Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged detailing its significance in telomere function and cell survival. This review provides a current assessment on the importance of telomerase regulation and relates it in terms of medical genetics. In this review, we discuss the recent findings on telomerase regulation, focusing on epigenetics and non-coding RNAs regulation of telomerase, such as microRNAs and the recently discovered telomeric-repeat containing RNA transcripts. Human genetic disorders that develop due to mutations in telomerase subunits, the role of single nucleotide polymorphisms in genes encoding telomerase components and diseases as a result of telomerase regulation going awry are also discussed. Continual investigation of the complex regulation of telomerase will further our insight into the use of controlling telomerase activity in medicine.
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    Standards and legacies: Pragmatic constraints on a uniform gene nomenclature
    (Sage, 2019-06) Halverson, Colin Michael Egenberger; Medicine, School of Medicine
    Over the past half-century, there have been concerted efforts to standardize how clinicians and medical researchers refer to genetic material. However, practical and historical impediments thwart this goal. In the current paper I argue that the ontological status of a genetic mutation cannot be cleanly separated from its pragmatic role in therapy. Attempts at standardization fail due to the non-standardized ends to which genetic information is employed, along with historical inertia and unregulated local innovation. These factors prevent rationalistic attempts to ‘modernize’ what is otherwise trumpeted as the most modern of the medical sciences.