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🚀 Breakthrough in Research on Inherited Blindness!
Researchers at Radboudumc have discovered a new genetic cause of retinitis pigmentosa (RP) — an eye disease affecting about 1 in 5,000 people worldwide, often leading to tunnel vision and eventually complete blindness.
🔬 The team identified changes in a special piece of DNA, the RNU42 gene, which does not produce a protein but plays a crucial role in processing genetic information. The discovery began with one American family, and through international collaboration, provided answers for 153 patients from 67 families worldwide.
💡 This research reveals that noncoding genes — DNA segments that do not produce proteins — can also play a major role in inherited retinal diseases. A new dimension in genetic research!
❤️ For the families involved, this breakthrough not only clarifies the cause of their condition but also offers new opportunities for genetic counselling, diagnostics, and informed reproductive choices.
🔍 A significant step forward in unravelling inherited blindness — and a new chapter in genetics.
The research is published in Nature Genetics: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa – Mathieu Quinodoz*, Kim Rodenburg*, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn […], Frans P. M. Cremers, Winston Lee, Jamie M. Ellingford, David Stanek, Susanne Roosing#, Carlo Rivolta#. DOI: 10.1038/s41588-025-02451-4.
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