Dravet syndrome, a rare genetic epilepsy in children, is marked by prolonged seizures and developmental issues due to SCN1A gene variants. Researchers, led by Gemma Carvill, PhD, uncovered potential therapeutic targets by exploring the role of intronic variants in the gene. The findings suggest that these introns, previously considered less important, can disrupt normal gene function and protein expression. Utilizing iPSC-derived neurons and advanced RNA sequencing techniques, the team found critical insights that could lead to innovative gene-targeting treatments for affected patients.
This offers a unique opportunity for therapeutic potential because we have, for most patients, a single target, said Sheng Tang, MD, PhD, a postdoctoral fellow in the Carvill laboratory and lead author of the study.
So that raised the question of why were these intronic regions potentially important, and what's going on in that area, Tang said.
Using long-read RNA sequencing to study the iPSC-derived neurons, the scientists identified 'poison exons,' or exons that had been alternatively spliced around these intronic SCN1A variants.
Patients typically respond poorly to anti-seizure medication treatments, underscoring the need for new gene-targeting therapies.
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