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New Spotlight article published

We are pleased to share a new Spotlight article about the groundbreaking work of Quinodoz, Rodenburg, and colleagues. Their research showed that changes in a group of little-studied genes, named RNU4-2 and RNU6, can cause a hereditary form of retinal degeneration known as autosomal dominant retinitis pigmentosa.

Importantly, these genes do not code for proteins and are located in parts of the genome that have often been overlooked. The findings demonstrate that these "hidden" regions of our DNA can play a crucial role in human diseases and may potentially help explain genetic disorders that have remained unresolved for many families.

This discovery broadens our understanding of the genetic causes of hereditary retinal disorders and highlights the importance of looking beyond traditional disease genes.

👉 Read the full Spotlight article here: 2026-Spotlight-article-TIG

https://doi.org/10.1016/j.tig.2026.03.003

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innovative human 3D blood vessel organoid model

New publication in the Journal of Histochemistry & Cytochemistry presents an innovative human 3D blood vessel organoid model.

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innovative human 3D blood vessel organoid model

We are pleased to share a new publication in the Journal of Histochemistry & Cytochemistry. The study presents an innovative human 3D blood vessel organoid model that can be used to investigate how chronic low-oxygen conditions (hypoxia) affect the smallest blood vessels in the body.

Using human induced pluripotent stem cell (iPSC)-derived blood vessel organoids, the researchers demonstrate how prolonged hypoxia triggers changes that resemble those seen in diseases such as diabetic retinopathy, age-related macular degeneration, cardiovascular disease, and cancer. This versatile model provides a powerful new tool for studying microvascular dysfunction and testing potential therapeutic approaches.

👉 Read the publication: 2026-Blood-vessel-organoids

https://doi.org/10.1369/00221554261437861

New Spotlight article published

We are pleased to share a new Spotlight article about the groundbreaking work of Quinodoz, Rodenburg, and colleagues.

publication

Breakthrough in Research on Inherited Blindness

Published in Nature Genetics: 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. 

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Breakthrough in Research on Inherited Blindness

Breakthrough in Inherited Blindness Research
Researchers at Radboudumc have identified a new genetic cause of retinitis pigmentosa (RP), an eye disease that affects 1 in 5,000 people and can lead to tunnel vision or complete blindness.

They discovered a variant in the RNU4‑2 gene, a non‑coding RNA gene crucial for processing genetic information. Starting with one American family, the team—working with international partners—ultimately provided answers for 153 patients from 67 families worldwide.

The findings highlight the major role of non‑coding DNA in hereditary retinal diseases, opening new avenues for diagnosis, counseling, and future research.
A significant step forward in understanding inherited blindness and expanding the field of 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.