A new scientific discovery has renewed hope for thousands with neurodevelopment disorders - thanks to a global collaboration led by the University of Oxford.

This latest scientific collaboration has sought to solve the puzzle of a rare neurodevelopmental disorder (NDD), highlighting the role of a unique gene, RNU4-2.

These findings, published in Nature, offer answers and a glimmer of hope for a future treatment.

While most genes involved in NDDs are responsible for protein creation, RNU4-2 is different.

Instead, it makes an RNA molecule that plays a part in determining how other genes are processed.

Associate Professor at the University of Oxford, Nicola Whiffin, joined forces with researchers from across the world to analyse data from the 100,000 Genomes Project.

The project, a ground-breaker in its own right, sequences individuals’ entire genomes, allowing for the analysis of genes such as RNU4-2.

Upon delving into the data, the team discovered mutations in RNU4-2 in 115 NDD sufferers.

Many had the exact same variant, an addition of a single base at an important position in the RNA.

RNU4-2 is very active within the developing brain, any changes to it subsequently impacting how the cell processes other RNA molecules.

Professor Whiffin said: "What is most remarkable about this discovery is how often changes in this gene result in NDD.

"Including RNU4-2 in standard clinical genetic testing will end diagnostic odysseys for thousands of NDD patients worldwide and provide long-awaited hope to families."

Mothers of affected children expressed overwhelming relief and gratitude.

Jessica, a mother who formed a Facebook group to connect families affected by RNU4-2 mutations, said: "After a lonely 13-year diagnostic odyssey searching for the cause of my son’s medical challenges, learning about this discovery has been life-changing!

"This has opened the door for treatments to be developed and provides new hope.

"We can finally build a united community, raise awareness and help advance research toward a brighter future for our children."

Nicole Cedor, another affected mother, also enthusiastically embraced the discovery.

She said: "We are so grateful to each person on the research teams that worked tirelessly to find this diagnosis.

"We like to refer to RNU4-2 as 'renew', as our family is being renewed by this new information and hope for the future."

This revolution in understanding the causes of NDD has been hailed as a 'critical' finding that could pave the way for targeted therapeutic approaches.

It offers reassurance for families left in uncertainty by these disorders and lays a firm foundation for scientific and medical advances in the future.