Manchester study identifies two new neurodevelopmental disorders

Manchester researchers identify two new genetic conditions linked to brain development and outline how findings could change diagnosis and care.

Manchester scientists uncover two new neurodevelopmental disorders

Researchers at the NIHR Manchester Biomedical Research Centre and partners analyzed genetic data from thousands of people, including the 100 000 Genomes Project, to look at noncoding parts of the genome. They found mutations in regions that form R loops, structures that influence genetic activity, and linked them to two new neurodevelopmental disorders, RNU2-2 related disorder and RNU5B-1 related disorder. These conditions are associated with developmental delays, seizures and other neurological features.

Rose Anderson, now 18, was diagnosed with RNU2-2 related disorder in October 2024 after a long search for a cause. Her family has supported ongoing work, including donating skin cells for brain stem cell research. The study illustrates how advances in genomic medicine can connect clues from early pregnancy to lifelong outcomes and may help thousands of patients worldwide.

The study shifts the focus to noncoding DNA and the role of R loop structures in brain development. It shows that areas once dismissed as junk DNA can influence how the brain grows and functions. The collaboration drew on data from the 100 000 Genomes Project and the NIHR Manchester BRC to identify patterns that smaller studies could miss.

Yet the leap from discovery to care is not automatic. Access to testing and follow up care varies by country and health system. Naming new conditions raises questions about funding and how quickly families can benefit from new knowledge. The work sets up a hopeful path, but it also asks policymakers to ensure equitable access to genomic advances.

Highlights

The road from discovery to care tests the balance between rapid science and broad access.