RNA as a functional readout of genetic disease across variant interpretation and therapeutic development

Tuesday, 9 June 2026, 9.30am to 10.30am

For our next talk, in the BDI/CHG (gen)omics Seminar series, we will be hearing from Dr Ruebena Dawes, postdoctoral researcher, Big Data Institute, University of Oxford, and incoming NHMRC Emerging Leadership Fellow. We’re delighted to host Ruby in what promises to be a great talk!

Date: Tuesday 9 June
Time: 9:30 am – 10:30 am
Talk title: RNA as a functional readout of genetic disease across variant interpretation and therapeutic development
Location: Big Data Institute, Seminar Room 0

Abstract
RNA provides a functional readout of how genetic variation leads to disease. I will first describe my PhD work developing SpliceVault, a large-scale resource leveraging population RNA-sequencing to predict the precise consequences of splice-altering variants, enabling more precise clinical interpretation and demonstrating that patterns of splicing observed in healthy populations can predict the molecular consequences of variants in disease. I will then present recent work defining a reproducible splicing signature for ReNU syndrome to aid in therapeutic development, showing how RNA perturbations can be distilled into a quantitative biomarker that is robust across cohorts, tissues, and model systems, and correlates with disease severity. I will conclude by outlining my research programme to use large-scale transcriptomic data to decode how genetic variation reshapes the transcriptome, including developing haplotype-aware approaches to interpret splicing variants, standardising splicing perturbation across tissues to improve detection of variant effects, and uncovering additional RNA-mediated mechanisms of pathogenicity beyond canonical splicing disruption.

Bio
Dr Ruebena Dawes is a postdoctoral researcher at the Big Data Institute, University of Oxford, and incoming NHMRC Emerging Leadership Fellow (EL1), developing methods to understand how genetic variation disrupts RNA splicing in human disease. Her work focuses on using large-scale transcriptomic data to bridge the gap between DNA variation and functional consequence, with applications in rare disease diagnosis and therapeutic development.

Speaker(s): Dr Ruebena Dawes (BDI, University of Oxford)

Series: BDI/CHG Genomics seminar

Venue: Big Data Institute - Lower Ground Seminar Room 0 - Lower Ground Seminar Room 0 Big Data Institute Old Road Campus Oxford Oxfordshire OX3 7LF United Kingdom

Department: Big Data Institute - NDPH (Unit)

Organiser: Sumeeta Maheshwari

Host: Prof Thomas Nichols

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