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, Australia, have been identified as living with the condition, but thousands more remain undiagnosed, researchers have said.
Study lead, Adam Jackson, said the researchers « believe that as many as in one in 100 people could unknowingly be carriers of this condition ».
Dr Jackson, an academic clinical fellow at the Manchester Centre for Genomic Medicine, said: « 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. »
Children with the condition suffer severe epilepsy, including seizures which can cause them to lose consciousness.
There can also be delays in reaching key milestones, such as walking or talking, and the condition can lead to significant learning problems.
Ava, who is non-verbal, has profound learning disabilities and suffers from severe epilepsy.
Previously she often endured between100 and 200 seizures each day, but these are now controlled more effectively by medication.
Ava can only walk short distances and falls frequently.
« Having a diagnosis is incredibly meaningful, » said Ava’s parents, Daniel Begley and Elizabeth Dowd.
In a statement, they described their « relief at finally having a diagnosis, but also sadness in understanding the seriousness of the condition and how rare it is ».
« It gives Ava a name and a place in the medical world, rather than being an unanswered mystery, » their statement said.
« It helps us feel that we are getting closer to the starting point of being able to find a cure or treatment, and provides hope that research and awareness may lead to better understanding and support in the future. »
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