World Rare Disease Day: Advancing Research Through Collaboration and Public Involvement

Friday 28th February 2025, marks World Rare Disease Day, a moment to reflect on the vital role of research in improving the lives of people living with rare diseases. It also highlights the invaluable contributions of Public and Patient Involvement (PPI) in ensuring research is meaningful, relevant, and impactful.

UCD researchers are at the forefront of rare disease research in Ireland and beyond, working in partnership with patients, families, and advocacy groups. Looking ahead, the Rare Disease Research Conference in O’Reilly Hall, UCD on April 10th, will bring together leading experts, patient advocates, regulatory experts and industry representatives to discuss advances in the field.

The Impact of Rare Disease Research

Globally, 300 million people live with a rare disease - 300,000 of whom are in Ireland. Each year, thousands of Irish families receive a rare disease diagnosis, often facing uncertainty, isolation, and limited treatment options as a result. Research offers hope, new insights, and potential therapies while fostering community and support for those affected.  At UCD, research is shaped by lived experiences, with patients and families actively engaged in the research process.

A parent of an adult son with a rare disease describes the power of PPI in rare disease research:

“So much of what we go through is invisible to others, and at the same time, you’re battling misconceptions about what your life must be like. PPI brings that experience into the light, bringing awareness to the challenges, the curiosities and the wonderful things. Then, we can ask the research questions that need to be asked, the ones that won't even come up unless someone makes these hidden realities visible.”

UCD-Led Rare Disease Research Initiatives

UCD is leading three rare disease research programmes, all of which are deeply ingrained with PPI and multidisciplinary collaboration:

• Rare Disease Clinical Trial Network (RDCTN) - Co-led by Professors Rachel Crowley and Cormac McCarthy, this HRB-funded initiative addresses the challenges of conducting rare disease clinical trials in Ireland by supporting education and training, regulatory frameworks, public and patient involvement and industry engagement. It is a collaboration and support hub that links and develops national and international rare disease expertise and innovation while keeping the patient voice at the centre of all its work.

Join the RDCTN Rare Disease Researcher Registry (opens in a new window)here.  

Join the RDCTN mailing list (opens in a new window)here.

Read about the power of rare disease research from a parent's perspective in conversation with RDCTN PPI Liaison Officer Dr. Cassandra Dinius (opens in a new window)here.

• Rare Disease Research Catalyst Consortium (RDCat) - Led by Professor Rachel Crowley and funded by the HRB, RDCat connects Irish-based researchers, clinicians, and patient advocates with international networks to strengthen rare disease research.  Activities include enabling the use of European Reference Network disease registries, rare disease researcher training, increasing the influence of rare disease patients in research and developing research pathways for undiagnosed patients under the upcoming ERDERA partnership programme.
  
  
• The All-Ireland Rare Disease Interdisciplinary Research Network (RAiN), co-led by Associate Professor Suja Somanadhan (UCD) and Professor AJ McKnight (QUB), continues to foster cross-border collaboration in rare disease research between the Republic of Ireland and Northern Ireland.

As part of Rare Disease Month 2025, the RAiN-CARG (Children and Young People’s Advisory Group) co-designed an educational video to help children and young people better understand the experiences and challenges of those living with rare diseases. This video fosters awareness, empathy, and inclusivity within communities by engaging young audiences in meaningful conversations about rare diseases. RAiN-CARG plays a crucial role in advocacy, education, and research collaboration, ensuring that young people's perspectives are at the heart of rare disease initiatives.

🎥 Watch the video here: (opens in a new window)https://youtu.be/3hXalrB_4Y

These programmes have national and international impact, spanning clinical care, data collection, education, regulation, and patient advocacy. Collaborators include (opens in a new window)Health Research Charities Ireland, (opens in a new window)Rare Diseases Ireland, (opens in a new window)RCSI, (opens in a new window)NUIG, (opens in a new window)Ulster University, (opens in a new window)Queen’s University Belfast, (opens in a new window)MTU Tralee, (opens in a new window)UCC, (opens in a new window)European Reference Networks (ERNs),  (opens in a new window)European Rare Disease Research  Coordination and Support Action Consortium (ERICA),  (opens in a new window)Children’s Health Ireland, (opens in a new window)TCD, (opens in a new window)HRB-TMRN, (opens in a new window)EURORDIS – Rare Diseases Europe and (opens in a new window)European Rare Disease Research Alliance (ERDERA).

Rare Disease Research Conference – 10th April, O’Reilly Hall, UCD

The Rare Disease Research Conference will bring together world-leading researchers, patient advocates, regulatory experts and industry representatives. Topics will include:

• Rare disease research methodologies
• Translational research
• European Reference Network Patient Registries
• Rare disease clinical trial partnerships

Registration and further details are available (opens in a new window)here.

Photo: Pictured at the launch of the RAiN-CARG video by Ombudsman for Children, Dr Niall Muldoon, on the 17^th February  are: Back Row (L-R) Melissa Kinch (RAiN CRAG coordinator), Aaryan Mahesh, Ethan Gilroy (RAiN CRAG members), Dr. Niall Muldoon (Ombudsman for children), Shannon Egan, Lucy Gallagher, Maria Gilroy, Darragh Egan (RAiN CRAG members), Harry Shier (RAiN CRAG facilitator). 
Front Row (L-R) - Dr. Suja Somanadhan and Prof. AJ McKnight (RAiN Co-leads)