A new genetic condition discovered by researchers in Manchester is offering answers and hope for the future to some children with drug-resistant seizures and developmental delays.
The researchers have called the condition ‘recessive RNU2-2related neurodevelopmental disorder’ which is caused by a faulty RNU gene. The RNU genes are a group of small non-coding genes, which recent research from Manchester has suggested are important in how the brain develops and works.
The condition causes drug-resistant epilepsy and developmental delays in children, often starting before the child turns one years old.
Study lead Dr Adam Jackson explained that the researchers estimate around 1 in 100 people could be a carrier of the faulty gene without knowing, meaning millions of people worldwide could be carriers.
They explained that if two parents are both carriers of the faulty gene, there is a one in four chance that their child could be affected by the condition.
“We estimate roughly 1 in 40,000 people may be living with this condition, making it one of the most common neurodevelopmental disorders currently known,” Dr Jackson 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.”
Paving the way to new treatments
Dr Jackson added: “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.”
Professor Siddharth Banka, study lead and clinical director of the Manchester Rare Conditions Centre (MRCC), explained that this shines a light on areas of human DNA “sometimes dismissed as ‘junk DNA’” and their importance in health.
He added: “Looking to the future, this discovery paves the way to help unlock life-changing treatments for the recessive RNU2-2-related neurodevelopmental disorder.”
The team studied changes in hundreds of the RNU genes using data from the 100,000 Genomes Project by Genomics England.
The research was carried out by the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC).
No longer an “unanswered mystery”
The research has already made a difference to more than 80 children around the world. One family based in Sydney, Australia, said being able to have the diagnosis is “incredibly meaningful” to them.
Six-year-old Ava lives with severe epilepsy, intellectual disability and developmental delay. She needs full-time care and is non-verbal. Sydney Children’s Hospital Clinical Genetics Team worked with the Manchester researchers to help diagnose Ava’s condition.
Her parents, Daniel and Elizabeth, say she “brings extraordinary love and meaning into our lives”.
They said: “Ava is a beautiful little girl with a bright presence. She loves looking through books, music, sensory play, being outdoors, and spending time with her family.”
The family said they have been through extensive medical testing to try to find answers and help with Ava’s care, but have “lived with a long period of uncertainty”.
“Having a diagnosis is incredibly meaningful. It gives Ava a name and a place in the medical world, rather than being an unanswered mystery.
“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.”
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.”
Epilepsy and genetics facts
- Epilepsy can sometimes have a genetic link. One or more genes may have changes in them that alter how the body works. This can be very complex.
- Sometimes, genetic causes of epilepsy might be passed down from parents to a child, but other times, a change could just happen by chance as a baby develops during pregnancy.
- Epilepsy may also not have a genetic link and be caused by other factors.
- Your epilepsy specialist can refer you for genetic testing if they believe there might be a genetic factor – but it might not always be possible to identify the exact cause.
- Genetic testing is free on the NHS if you have been referred, and is done using a sample of blood or saliva.
- Genetic testing might help to diagnose the epilepsy alongside other tests, help decide on the best treatment options or understand if your epilepsy can be passed down to your children.
There is more information around what we know about epilepsy and genetics on the Epilepsy Action website.
Genetics and epilepsy
Explaining the links between epilepsy and genetics, as well as genetic testing and how it might benefit epilepsy.