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Researchers have identified a new genetic disorder that causes difficult-to-manage epilepsy and serious developmental delays in children, frequently presenting within their first year of life.
This new condition, which the researchers have named “Recessive RNU2-2-related neurodevelopmental disorder”, is one of the most common genetic causes of severe epilepsy.
The researchers from the National Institute for Health and Care Research (NIHR) and the Manchester Biomedical Research Centre (BRC) suggest that this discovery could open the door to developing life-changing treatments for the recessive RNU2-2-related neurodevelopmental disorder.
Published in the journal Nature Genetics, the research has so far identified 84 individuals living with the new condition, while experts estimate that thousands more remain undiagnosed worldwide. It is believed that millions of people globally could be ‘carriers’ of the faulty gene behind this disorder.
Discovery could pave the way for life-changing epilepsy treatments
Dr Adam Jackson, study lead, said: “Our discovery brings hope for many patients and families who have been searching for answers and is already having a positive impact around the world.
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“What makes this discovery even more remarkable is that RNU2-2 is extremely small in comparison to other genes. Unlike most other genes, RNU2-2 does not even make a protein. We were astonished to discover how changes in this tiny gene can have such profound effects in so many individuals.”
The team studied changes in hundreds of the RNU genes using data from the 100,000 Genomes Project by Genomics England. The RNU genes are a group of small non-coding genes that recent research from Manchester has suggested are important for how the brain develops and functions.
Tom Shillito, health improvement and research manager, Epilepsy Action, said: “For families facing rare and severe epilepsy, the impact is felt every day, from unpredictable seizures to challenges with communication, learning and independence.
“Research into the RNU2-2 gene is an important and promising step in helping us better understand what’s driving these conditions. It is still early days, but progress like this brings hope for improved support and future treatments.”
