Media & Publications

Official release from Manchester University NHS Foundation Trust announcing today's Nature Genetics publication. Features the story of Ava Begley, a six-year-old from Sydney, Australia, who is among the first 80+ people globally to receive a diagnosis of recessive RNU2-2 syndrome. Lead author Dr. Adam Jackson estimates that 1 in 40,000 people may be living with this condition, with roughly 1 in 100 unknowingly carrying a variant. Prof. Siddharth Banka announces a new dedicated RNU clinic at MFT to identify and support more patients.

Reporting on today's Nature Genetics publications: researchers at Icahn School of Medicine at Mount Sinai, in collaboration with the Undiagnosed Diseases Network (Stanford), UK, Netherlands, Belgium, and Italy, announce recessive RNU2-2 syndrome. Estimated to affect thousands in the US and account for about 10% of all recessive NDD cases with a known genetic cause. The team is now enrolling families in the INDEED study at Mount Sinai.

Distributed wire version of the Mount Sinai press release covering today's publication. Notes that children typically inherit one altered copy of RNU2-2 from each unaffected carrier parent, and that symptoms range from mild learning difficulties to drug-resistant epilepsy and movement disorders. Contextualizes the recessive discovery within the three-year arc of RNU gene discoveries beginning with RNU4-2/ReNU syndrome in 2024.

A detailed expert blog post by renowned epilepsy geneticist Dr. Ingo Helbig covering the broader class of RNU-related spliceosome disorders, including RNU2-2. Places RNU2-2 in the context of the rapidly evolving RNU gene discovery landscape and explains why these conditions are often missed on traditional exome sequencing.

A Washington Post feature profiling families of children with the closely related ReNU (RNU4-2) syndrome, covering the broader landscape of RNU gene disorders including RNU2-2. Five families gathered in a D.C. park to share their stories.

Features the story of 18-year-old Rose Anderson from Stretford, Manchester — diagnosed with RNU2-2-related disorder in October 2024 after nearly a lifetime of unresolved seizures and developmental delay. A deeply human account of the diagnostic journey and what a diagnosis can mean for a family.

In-depth coverage noting that unlike many inherited disorders, RNU2-2 mutations arise de novo. Highlights the discovery of a separate somatic mutation that appears to accumulate with age, and emphasizes the broader significance of whole-genome sequencing in uncovering hidden causes of disease.

Plain-language summary emphasizing that RNU2-2 mutations typically arise spontaneously (de novo) rather than being inherited, and highlighting how the discovery underscores the importance of previously overlooked non-coding genes in brain development.

Coverage with commentary from Prof. E. Shyam P. Reddy (Morehouse School of Medicine), explaining that RNU2-2 mutations appear to arise de novo and noting that the mutations disrupt RNA splicing and gene expression during brain development.

Explains what RNU2-2 is — a small non-coding gene that does not produce proteins but plays an essential role in regulating cellular functions — and how this discovery builds on the team's earlier work with RNU4-2/ReNU syndrome.

Accessible summary of the Nature Genetics findings for a general science audience, covering the discovery, prevalence estimates, and implications for the thousands of families worldwide who may receive a diagnosis.

Official press release from the research team that published the primary RNU2-2 paper. Quotes lead author Dr. Daniel Greene and senior author Dr. Ernest Turro, and explains how whole-genome sequencing of 50,000+ individuals made the discovery possible.

The official wire press release distributed to science journalists worldwide at the time of the dominant RNU2-2 syndrome publication in Nature Genetics.

Explains how the National Genomic Research Library — holding data from 100,000 Genomes Project participants — enabled these discoveries. Describes RNU2-2 in the context of the broader "non-coding genome" or "DNA dark matter," and why whole-genome sequencing is essential to find these variants.

Wikipedia's reference article on RNU2-2 syndrome, describing the dominant form and the most common mutations at n.4G>A and n.35A>G. Will likely be updated to reflect today's recessive syndrome publications.

Spanish-language coverage of the RNU2-2 discovery for families and clinicians in Spain and Latin America.