Manchester team links RNU2-2 gene to severe epilepsy
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- Researchers from Manchester University NHS Foundation Trust and the University of Manchester analysed thousands of RNU genes using data from Genomics England's National Genomic Research Library, part of the 100,000 Genomes Project.
- Adam Jackson estimated that up to one in 100 people could be carriers of the recessive RNU2‑2‑ neurodevelopmental disorder and that roughly one in 40,000 may live with the condition, making it one of the most common neurodevelopmental disorders known.
- NIHR Manchester Biomedical Research Centre reports that millions of people worldwide are likely carriers of the faulty RNU2‑2 gene.
- 84 individuals have been identified as living with the disorder, including five‑year‑old Ava Begley of Sydney, who previously experienced 100‑200 seizures per day.
- Ava Begley's parents said the diagnosis was “incredibly meaningful,” providing a name for her condition and hope for future treatments, while medication now controls her seizures more effectively.
Why it matters: Parents of children like five‑year‑old Ava Begley gain a definitive diagnosis and hope for targeted therapies, while clinicians and researchers obtain a clearer prevalence picture—potentially affecting millions of carriers worldwide and guiding future drug development for this neurodevelopmental disorder and informing health‑policy decisions.
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