Leveraging isoform-level RNA sequencing to understand rare disease pathogenesis

Join us for our webinar, Leveraging isoform-level RNA sequencing to understand rare disease pathogenesis, in a next-level exploration of the latest advancements in RNA sequencing technology and its application in the study of rare and inherited diseases.

Seize the opportunity to learn from Dr. Carolina Jaramillo Oquendo, a Research Fellow at the University of Southampton, as she presents her analyses of rare disease samples, in collaboration with the University Hospital Southampton NHS Foundation Trust. Dr. Oquendo will also discuss her groundbreaking work demonstrating how transcriptomics, utilizing the new full-length Kinnex RNA kit, has been instrumental in revealing the underlying biology in samples from individuals with rare diseases where short-read genome sequencing did not provide an explanation.

Why watch?

  • Hear real-world applications: Listen to Dr. Carolina Jaramillo Oquendo, a Research Fellow at the University of Southampton, as she shares her pioneering research in rare disease samples using our transcriptomics solutions.
  • Uncover innovative sequencing techniques: Explore how PacBio HiFi sequencing surpasses traditional RNA sequencing capabilities, offering extraordinary resolution in bulk RNA transcriptome research. 
  • Learn about isoforms in focus: Understand the critical role of isoforms in human genomics research and how long-read bulk RNA sequencing with our new full-length Kinnex kit provides unique insights.
  • Explore bioinformatics breakthroughs: Delve into the latest bioinformatics analysis methods designed for long-read RNA sequencing in the context of rare diseases.

This session is not just about learning new techniques; it's about transforming how we approach human genomics research. By attending, you'll be at the forefront of adopting PacBio solutions for transcriptomics, especially in the field of Rare and Inherited Diseases (RID).

Don’t forget to stick around and have your questions answered during the live Q&A session at the end of the event!

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Carolina Jaramillo Oquendo, PhD

Research Fellow, Faculty of Medicine, University of Southampton

Nina Gonzaludo, PhD

Sr. Manager, Human Genomics Segment Marketing, PacBio

Geoff Henno
Associate Director, Precision Health, PacBio
Host and moderator

Elizabeth Tseng, PhD

Associate Director, Product Marketing, PacBio