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PTAC/CFTR
Workshop

W31--Progress Overcoming Premature Stop Codons in CFTR

Saturday, September 28, 2024
7:45 AM – 9:45 AM ET
Location:157 A-C

Recorded Session

This session is comprised of a series of short presentations on research investigating approaches for treating cystic fibrosis caused by sequence variants that cause premature translational stop/termination codons (PTCs). The five talks will cover topics from pharmacological rescue of CFTR function that is disrupted by premature termination as well as enhancement of translational readthrough that occurs during inflammation or through the use of antisense oligonucleotide targeting. The consequences of translating through PTCs both on the CFTR function and on cellular processes are also presented.

Learning Objectives:

  • Understand the basic principles of gene inactivation by premature termination codons (PTCs).
  • Learn the process by which translation termination occurs when the ribosome encounters a PTC.
  • Learn the strategies that are being developed to promote translational readthrough of PTCs in CFTR as a way to recover full-length protein production.

Presentations:

  • 7:45 AM – 9:45 AM ET
    W31.1- Pharmacological rescue of CFTR premature termination codon (PTC) variants

    Speaker: Emily Bulik-Sullivan, n/a (she/her/hers) – UNC-Chapel Hill

  • 7:45 AM – 9:45 AM ET
    W31.2- CFTR PTC readthrough can be enhanced by a transcript-specific ASO approach

    Speaker: Jae seok Yoon, PhD (he/him/his) – Cystic Fibrosis Foundation

  • 7:45 AM – 9:45 AM ET
    W31.3- Rescue of CFTR nonsense mutations is enhanced under inflammatory stimuli

    Speaker: Anna Borrelli, N/A (she/her/hers) – TIGEM- Telethon Institute of Genetics and Medicine

  • 7:45 AM – 9:45 AM ET
    W31.4- Determining the functional consequences of translational readthrough at common CFTR nonsense mutations

    Speaker: Kari Thrasher, PhD – University of Alabama at Birmingham

  • 7:45 AM – 9:45 AM ET
    W31.5- Global suppression of nonsense-mediated mRNA decay exacerbates the inflammatory response

    Speaker: Zhongyou Li, PhD (he/him/his) – University of Colorado Anschutz Medical Campus