New hope for children with severe epilepsy after Manchester study

Scientists from Manchester are among those who have helped identify a neurodevelopmental disorder which is believed to be one of the most common genetic causes of childhood epilepsy. The condition, called recessive RNU2-2-related neurodevelopmental disorder, is associated with seizures and severe developmental delay in children less than a year-old, in areas such as speech and walking. The NIHR (National Institute for Health and Care Research ) Manchester Biomedical Research Centre estimates there are millions of "carriers" of the faulty gene globally. Parents have described the breakthrough as "incredibly meaningful" and a starting point for better treatment and understanding of the condition. Researchers from Manchester University NHS Foundation Trust and the University of Manchester analysed changes in thousands of RNU genes, using data from Genomics England's National Genomic Research Library (NGRL). The NGRL data came from participants in the 100,000 Genomes Project, which studies the role genes play in rare health conditions and looks at how any new information might help develop further treatments. Currently 84 people, including five-year-old Ava Begley - who lives in Sydney