19/06/2025
🧬 On today, read how 18-year-old Rose Anderson was diagnosed with a new genetic disorder discovered by researchers from Manchester University NHS Foundation Trust (MFT).
This month, we announced that the team from MFT, The University of Manchester and the NIHR Manchester Biomedical Research Centre, had uncovered two new neurodevelopmental conditions: RNU2-2-related disorder and RNU5B-1-related disorder.
🎵 Rose, who was diagnosed with RNU2-2-related disorder in October 2024, loves music, walking, swimming, visiting cafes and riding a tandem bike. She lives in Stretford with her mum Lyn, dad Joe and younger sister, Lily.
At Lyn’s 20-week pregnancy scan, it was first suspected that Rose may have a rare genetic condition. Despite undergoing extensive genetic testing at MFT and taking part in research, the team had been previously unable to find a specific cause for Rose’s seizures and developmental delay.
Rose’s mum, Lyn, said: “This breakthrough is fantastic, and we hope it will lead to more families receiving a diagnosis now and when early symptoms first appear. This could help improve quality of life for other children and young people and find out what it is that makes them unique.” ⭐
🧠 Rose and her family are working with the Manchester team to help them better understand RNU2-2-related disorder. Rose has also taken part in more research at MFT since receiving her diagnosis, including donating skin cells to help the team produce brain stem cells for epilepsy research.
Rare Chromo Day (19 June 2025), led by Unique - Understanding Genes and Chromosomes, is all about sharing stories and raising awareness beyond those affected by rare chromosome and gene disorders.
Read Rose’s full story and find out more about the two groundbreaking discoveries led by Dr Adam Jackson and Professor Siddharth Banka from MFT and Manchester Rare Conditions Centre 👇
https://research.cmft.nhs.uk/news-events/manchester-discovery-of-two-new-genetic-disorders-improves-diagnoses-for-patients-with-neurodevelopmental-conditions
