RNU4-2 / ReNU Syndrome in the News
2025
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Girl, 9, has rare condition diagnosed thanks to chance discovery by biologists
itv NEWS | February 21, 2025
The family of a young girl from Oxfordshire, whose condition was baffling doctors, say they've finally got some answers thanks to a chance discovery by biologists.
“This finding was huge and it was really exciting and unexpected that researchers were able to find a genetic cause for a genetic condition that affects thousands of families worldwide.”
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My son Charlie — and the breakthrough that changed our lives
The Sunday Times | March 2, 2025
James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a video call and an answer
“Knowing that it’s not your fault is really important. It’s not often enough taken into account. It just nags away in the back of your mind.”
2024
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Hundreds of thousands could be affected by newly discovered genetic disorder
GloucestershireLive | July 12, 2024
A new groundbreaking study of the human genome may have identified the cause of a severe disability in children and adults that is estimated to affect hundreds of thousands of people globally“The study, which was led by Genomics England and NHS England, discovered that dozens of the patients enrolled in the landmark 100,000 Genomes Project, all had mutations in the same gene, RNU4-2 but interestingly, this particular gene has no connection to making proteins.”
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New discovery renews hope for thousands with neurodevelopment disorders
University of Oxford, Department of Paediatrics | July 12, 2024
A global collaboration led by scientists at the University of Oxford has discovered that genetic variants in a specific gene cause a rare neurodevelopmental disorder (NDD).“The study estimates that these specific changes in the RNU4-2 gene can explain 0.4% of all NDD cases globally, potentially impacting hundreds of thousands of families across the world.”
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Scientists uncover genetic disorder that may affect thousands around world
The Guardian | July 11, 2024
Mutation in RNU4-2 gene linked to severe developmental delay, with hundreds of people already diagnosed“We like to refer to RNU4-2 as “renew”, as our family is being renewed by this new information and hope for the future.”
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Noncoding Gene Identified as Cause of Intellectual Disability Affecting Thousands
Genetic Engineering & Biotechnology News | June 3, 2024
Researchers at the Icahn School of Medicine at Mount Sinai, and collaborators at the University of Bristol, KU Leuven, and the NIHR BioResource, have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide.
“Analysis of national genomic diagnostic data showed RNU4-2 to be a more common etiological gene for neurodevelopmental abnormality than any previously reported autosomal gene…”
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Researchers find a single, surprising gene behind a disorder that causes intellectual disability
Medical Xpress | June 2, 2024
Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.
“Researchers said the mutations occurred in a small "non-coding" gene, meaning it doesn't provide instructions for making proteins.”
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Researchers Identify a Genetic Cause of Intellectual Disability Affecting Tens of Thousands
Mount Sinai Hospital | June 1, 2024
Novel study links genetic changes in a non-coding gene called RNU4-2 to neurodevelopmental disorders
“The genetic changes we found affect a very short gene, only 141 units long, but this gene plays a crucial role in a basic biological function of cells, called gene splicing…”