Connecting rare disease research across Wales

The Wales Rare Diseases Research Network (RDRN) has been established to transform the landscape of rare disease research in Wales, creating a connected and inclusive community bringing together patients, researchers, clinicians, policy makers and industry partners. 

Rare diseases affect around 170,000 people in Wales, roughly one in 17. Patients often face delayed diagnoses, limited treatment options and fragmented care pathways. The Wales RDRN aims to tackle these barriers by linking expertise and lived experience together to drive forward patient-centred rare disease research and innovation. People with lived experiences, families and advocates will help shape priorities and design studies, ensuring research addresses real-world needs of people in Wales. 

The inaugural Wales RDRN meeting was held at Swansea University on 26 September where opening the meeting, Professor Iolo Doull, Medical Director, NHS Wales Joint Commissioning Committee and Chair of the Wales Rare Diseases Implementation Network (RDIN) said: 

"This network is about more than research. It’s about community, co-production and commitment. Together, we can make Wales a leader in rare disease research and, most importantly, improve outcomes for those who need it most." 

The Wales RDRN will play a vital role in delivering on the Welsh Government’s Rare Diseases Action Plan, which focuses on four national priorities: 

1. Helping patients get a final diagnosis faster;  
2. Increasing awareness among healthcare professionals;  
3. Better coordination of care; and  
4. Improving access to specialist treatment and medicines.   

The morning sessions at the meeting was chaired by Dr Jamie Duckers, Specialty Lead for Respiratory at Health and Care Research Wales, who said: 

“Wales is the right size to do rare disease research. We are small enough to collaborate effectively but with world-class data, clinical networks and researchers. 

“And with the powerful voices of people with lived experience, we can build a truly successful research network.” 

Looking ahead, the Welsh Rare Diseases Research Network will serve as a platform for collaboration, innovation and advocacy. It will support early-career researchers, foster interdisciplinary partnerships and help attract investment into rare disease research in Wales. It will also provide a space for dialogue, where patients, clinicians and scientists can come together to share ideas, challenge assumptions and build solutions. 

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