Xiaohongshu
- Hosted by Genetics Society
👩🔬 Speaker: Dr Stephanie Efthymiou
📅 Date: 27 October 2026
⏰ Time: 11:30 AM to 12:30 PM
📍 Location: B05 Darwin Building
📑 Paper: Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort https://jmg.bmj.com/content/61/7/645
Genetic testing is increasingly used to diagnose childhood epilepsy, but are all patients equally likely to receive a meaningful answer? This study compared next-generation sequencing outcomes across ancestry groups and found that children from ancestries historically underrepresented in biomedical research were significantly more likely to receive variants of uncertain significance.
Joining us is Dr Stephanie Efthymiou, Senior Research Fellow at UCL Queen Square Institute of Neurology, whose research focuses on the genetic and functional basis of rare neuropathies and neurodevelopmental disorders.
Together, we’ll explore how ancestry representation affects variant interpretation, what a VUS actually means clinically, and how limitations in genomic reference datasets can propagate into diagnosis and precision medicine.
Themes: neurogenetics · genetic variation · ancestry · epilepsy · variant interpretation