MANCHESTER — Scientists from Manchester University NHS Foundation Trust and the University of Manchester helped identify recessive RNU2-2-related neurodevelopmental disorder. The disorder is associated with seizures and severe developmental delay in children less than one year old, affecting areas such as speech and walking.

Currently, 84 people have been identified as living with recessive RNU2-2-related neurodevelopmental disorder. Children with the condition suffer severe epilepsy, including seizures which can cause them to lose consciousness.

"We estimate roughly one in 40,000 people may be living with this condition, making it one of the most common neurodevelopmental disorders currently known," said Adam Jackson, academic clinical fellow at the Manchester Centre for Genomic Medicine.

The condition can cause delays in reaching milestones such as walking or talking and can lead to learning problems. Researchers analysed changes in thousands of RNU genes using data from Genomics England's National Genomic Research Library. The National Genomic Research Library data came from participants in the 100,000 Genomes Project.

One of the identified cases is five-year-old Ava Begley, who lives in Sydney, Australia. Ava Begley is non-verbal, has profound learning disabilities, and suffers from severe epilepsy. Previously, Ava Begley often endured between 100 and 200 seizures each day, but her seizures are now controlled more effectively by medication. At one stage, Ava Begley had up to 200 seizures in a single day. Ava Begley can only walk short distances and falls frequently.

"Having a diagnosis is incredibly meaningful," said Daniel Begley and Elizabeth Dowd. "It gives Ava a name and a place in the medical world, rather than being an unanswered mystery."

Researchers believe that as many as one in 100 people could unknowingly be carriers of this condition. According to NIHR Manchester Biomedical Research Centre, there are millions of carriers of the faulty gene globally.