Macray huff biography graphic organizers

  • Truncating mutation
  • Transversion mutation
  • What is a frameshift mutation

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    Abstract

    Missense mutations account for approximately 50% of pathogenic mutations in human genetic diseases, and most lack effective treatments. Gene therapies, gene editing, and RNA therapies, including transfer RNA (tRNA) modalities, are common strategies for genetic disease treatments. However, reported tRNA therapies are for nonsense mutations only. It has not been explored how tRNAs can be engineered to correct missense mutations. Here, we describe missense-correcting tRNAs (mc-tRNAs) as a potential therapeutic for correcting pathogenic missense mutations. Mc-tRNAs are engineered tRNAs charged with one amino acid, but read codons of another in translation. We first developed a series of fluorescent protein-based reporters that indicate the successful correction of missense mutations via restoration of fluorescence. We engineered mc-tRNAs that effectively corrected serine and arginine missense mutations in the reporters and confirmed the amino acid substitution by mass spectrom

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    Rethinking Wellness

    Well+Good head of content Faye McCray joins us to discuss wellness trends, including new options for postpartum care, AI in fitness, medical testing, wellness real estate, and more. We talk about the upsides and downsides of these trends, why Christy is skeptical of most of them, the unmet social needs they’re responding to, and how you can set boundaries around trends to avoid wellness traps. 

    Faye is Head of Content at Well+Good. She is an author, executive leader, journalist and attorney with a passion for brand building and storytelling. For nearly a decade, she practiced lag in competitive, fast-paced environments while building her own platform as a notable freelance writer and author. Faye founded and helmed Weemagine, a website devoted to inspiring creativity in children, before leading acquisitions and engagement for a leading tax publication. During Faye’s tenure, the social media platforms increased by over %, video content received over % more

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    Design of an extensive information representation scheme for clinical narratives

    • Research
    • Open access
    • Published:

    Journal of Biomedical Semanticsvolume 8, Article number: 37 () Cite this article

    • Accesses

    • 5 Altmetric

    • Metrics details

    Abstract

    Background

    Knowledge representation frameworks are essential to the understanding of complex biomedical processes, and to the analysis of biomedical texts that describe them. Combined with natural language processing (NLP), they have the potential to contribute to retrospective studies by unlocking important phenotyping information contained in the narrative content of electronic health records (EHRs). This work aims to develop an extensive information representation scheme for clinical information contained in EHR narratives, and to support secondary use of EHR narrative data to answer clinical questions.

    Methods

    We review recent work that proposed information representation schemes and applied them to the analys

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