Post by Raavi Sharma

Over the past few months, I’ve had the privilege of attending and presenting my research at the International Neurology and Neurosurgery Conference and the London Medical Schools Paediatric Conference. I was honoured to receive 1st prize at both conferences. I would like to thank the INNC team and the UCL Paediatric Society for organising such insightful conferences and to the students and clinicians who shared their inspiring research. 🌟Evaluation of the Efficacy of Two AAV9 Vectors on Scn1a Gene Expression in a Dravet Syndrome Mouse Model🌟 My project focussed on gene therapy as a potential treatment for Dravet syndrome, a rare inherited childhood epilepsy which currently has no effective treatment. The condition is characterised by febrile and generalised seizures and various psychomotor comorbidities, that can lead to early mortality. Most cases are due to a mutation in the SCN1A gene that codes for a type of sodium channel on inhibitory interneurons. Using a mouse model, we assessed viral vectors designed to upregulate this gene and observed promising results. Tests included recording the heat threshold for the temperature induction of seizures, 100 day survival % and measuring Scn1a expression and delivery of the vector treatments. With further dose adjustment and investigation, this approach may offer hope as a new treatment option for Dravet syndrome in the future. It was a real privilege to work in the UCL EGA Institute for Women’s Health Laboratory and to learn gene therapy techniques that are reshaping modern medicine, including: 🌟RNA/DNA extraction + normalisation 🌟Plasmid isolation 🌟Quantitative PCR sample analysis 🌟Data analysis using GraphPad Prism This project was completed as part of my integrated BSc in Medical sciences with Women’s Health at UCL. I would like to thank my supervisors Dr Juan Antinao Diaz and Dr Rajvinder Karda for their unwavering support and guidance.