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Researchers working across the Nottingham BRC themes came together to mark Rare Disease Day, 2025 and highlight the contribution their studies are making to improving the lives of patients with rare conditions.

Despite the terminology, rare diseases are more common than many people might think. There are around 7,000 rare conditions - with more being identified as science progresses, and one in 17 people are affected by a rare condition at some stage in their lives.

Researchers and clinicians were publicising Rare Disease Day at the entrance to Nottingham’s QMC Hospital with a stand on the day itself, Friday 28^th February, 2025.

Investigations into rare diseases are taking place across the Nottingham BRC Themes. Among the many research programmes, Nottingham hosts the UK’s research into LAM (Lymphangioleiomyomatosis), a rare and degenerative lung disease, with the country’s only clinic. Meanwhile, the MSIR (Musculoskeletal, Surgery, Inflammation and Recovery) theme is starting new research into Perthes Disease, where the hip bones degrades in childhood.

Dr Suzanne Miller, Senior Clinical Studies and Project Manager for the MSIR Theme and PhD student Chris Deacon are investigating sarcomas.

In addition, Professor Guru Aithal, Dr Tanya Monaghan and Dr Andrew Prayle from the GI & Liver and respiratory themes of the NIHR Nottingham BRC are investigating Ataxia Telangiectasia, Genetic cholestasis and cystic fibrosis.

Further research at Nottingham BRC is focused on areas including brain tumours, myotonic dystrophy and rare autoimmune rheumatic diseases (RAIRD).

Dr Rebecca Trueman, of the Nottingham Rare Disease Network, Associate Professor of Neuroscience University of Nottingham Medical School, and a researcher investigating myotomic dystrophy, commented:

“Our Rare Disease Research Network is currently focusing on the use of health data in rare disease research, exploring the Biomedical Research Centre’s leadership in harnessing health informatics and big data to benefit patients.”

She added: “By bringing researchers across disciplines and strengthening links and sharing knowledge with clinicians and NHS colleagues at our local hospitals, we hope to further establish Nottingham as a hub for innovation, where our work can make a real difference to the lives of patients living with rare conditions.”

Rare Disease Day is led by Rare Disease UK, an alliance pushing for lasting change that improves the lives of everyone affected by a rare condition. Medics4RareDiseases offers resources for medical professionals about rare disease.

In the East Midlands region, genomic testing for rare conditions is overseen by NHS East Genomics. You can find out more about genomic testing for rare and inherited conditions on their website. You can also join a Genomic Community of Practice which are open to healthcare professionals across the East Midlands and East of England.

On Rare Disease Day 2025, Medics 4 Rare Disease encouraged people to wear stripy socks on the campaign day to highlight rare diseases and their impact.