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SUMMARY:RNA as a functional readout of genetic disease across variant inte
 rpretation and therapeutic development
DTSTART;TZID=Europe/London:20260609T093000
DTEND;TZID=Europe/London:20260609T103000
DTSTAMP:20260527T025445Z
UID:a7ad0204-ef4d-f111-bec7-6045bd12f634
CREATED:20260512T104043Z
DESCRIPTION: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 Leader
 ship Fellow. We’re delighted to host Ruby in what promises to be a great
  talk!\n\nDate: Tuesday 9 June\nTime: 9:30 am – 10:30 am\nTalk title: RN
 A as a functional readout of genetic disease across variant interpretation
  and therapeutic development\nLocation: Big Data Institute\, Seminar Room 
 0\n\nAbstract\nRNA 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 preci
 se clinical interpretation and demonstrating that patterns of splicing obs
 erved in healthy populations can predict the molecular consequences of var
 iants in disease. I will then present recent work defining a reproducible 
 splicing signature for ReNU syndrome to aid in therapeutic development\, s
 howing how RNA perturbations can be distilled into a quantitative biomarke
 r that is robust across cohorts\, tissues\, and model systems\, and correl
 ates with disease severity. I will conclude by outlining my research progr
 amme to use large-scale transcriptomic data to decode how genetic variatio
 n reshapes the transcriptome\, including developing haplotype-aware approa
 ches to interpret splicing variants\, standardising splicing perturbation 
 across tissues to improve detection of variant effects\, and uncovering ad
 ditional RNA-mediated mechanisms of pathogenicity beyond canonical splicin
 g disruption.\n\nBio\nDr Ruebena Dawes is a postdoctoral researcher at the
  Big Data Institute\, University of Oxford\, and incoming NHMRC Emerging L
 eadership Fellow (EL1)\, developing methods to understand how genetic vari
 ation disrupts RNA splicing in human disease. Her work focuses on using la
 rge-scale transcriptomic data to bridge the gap between DNA variation and 
 functional consequence\, with applications in rare disease diagnosis and t
 herapeutic development.
LAST-MODIFIED:20260512T121017Z
LOCATION:Big Data Institute - Lower Ground Seminar Room 0\, Lower Ground S
 eminar Room 0 Big Data Institute Old Road Campus Oxford Oxfordshire OX3 7L
 F United Kingdom
SPEAKER:Dr Ruebena Dawes (BDI\, University of Oxford)
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