The patient-driven Rare Disease Research Network: turning research on its head 2025 Smith et al

[Andy]

Abstract​

Background

The vast majority of healthcare research in the UK is investigator-led. While national progress in patient and public involvement (PPI) increasingly mandates patient consultation, research questions and outcomes still frequently misalign with patient priorities. This is particularly important in rare disease research, as more than 95% of 11 000 conditions have no effective or curative treatment, and around 20% are not clinically defined, making them difficult to diagnose and manage. The unmet physical, mental and emotional needs of people living with rare diseases are immense. Extensive guidance and toolkits exist to support investigators with PPI, but none target patient communities attempting to promote their own priorities, initiate or co-lead research.

Aim

This communication article introduces the newly established patient-led Rare Disease Research Network (RDRN).

What is the RDRN, and how can it be useful?

Launched in November 2024, the RDRN is an open-access collaborative platform designed to support patient-driven and co-produced research, connecting patient and professional partners with similar research interests. Originally conceived by an ultra-rare patient group, the network was co-produced with the rare disease community, including individuals living with rare conditions, parents, carers and charity advocates, whose lived experience and priorities shaped every aspect of its design. Supported by academic and research networks, its collaborative development ensures RDRN removes barriers to participation while complementing existing initiatives.

RDRN is a novel approach to driving new impactful research by aligning investigator priorities with real-world needs and building capacity from patients outward. Rare disease communities bring lived expertise, creativity and motivation. Yet without a structured route to collaborate, their insights are often lost. RDRN offers an inclusive space, fostering new partnerships and supporting upstream collaboration. The approach enables patients to become ‘research ready’ and empowers them to have an active role in generating ideas and delivering research from inception, leading to innovative research and driving meaningful change in patients’ lives. With further development, RDRN could present a lasting, scalable and unified model for co-designed rare disease research. By enabling trust, capacity and shared purpose, it can drive discovery, improve outcomes and build a more resilient and self-sustaining research ecosystem, underpinning key pillars of the 2021 UK Rare Diseases Framework.

Open access

 

[Andy]

"There are nearly 11 000 rare diseases,1 each affecting fewer than one in 2000 people with a combined impact of over 3.5 million people (1 in 17) affected in the UK.2 Over 95% of rare diseases lack effective and curative treatments3 and up to 20% are not clinically defined,2 significantly impacting diagnosis, treatment and patient well-being. The unmet needs of people living with rare diseases are immense, compounded by multi-organ involvement, limited specialist expertise and fragmented care. Research is critical to improving diagnostic accuracy, advancing treatment development and understanding patient experiences.

The 2021 UK Rare Diseases Framework,2 associated action plans from devolved nations4–7 and 2024 initiatives including the Rare Disease Research UK (RDR UK)8 and LifeArc’s Translational Centres for Rare Diseases9 have created significant momentum for cross-sector collaboration and patient involvement in rare disease research. Between 2016 and 2021, over one billion pounds was invested by the Medical Research Council (MRC), National Institution for Health and Care Research (NIHR), Association of Medical Research Charities (AMRC) and industry partners into rare disease project grants and fellowships across the UK."

 

[Creekside]

I'm guessing it will be slow progress due to entrenched interests. I'm thinking of those jokes about companies that are continually pushing a new management technique with a new fancy acronym ... and the workplace just gets worse due to wasting time on the changes. The blame for failure is never on the ones coming up with the new methods.

Then again, no progress will occur without someone trying to change things.

 

[rvallee]

Then again, no progress will occur without someone trying to change things.

Now if only they didn't keep trying the same things with the same intents for all the same reasons and expecting... I don't even know at this point.

They keep trying things, and yet nothing ever changes. Even the things they try. Even the way they try things. Especially the way they assess the performance of those things: good if I like it, bad if I don't.

 

[BrightCandle]

Now if only they didn't keep trying the same things with the same intents for all the same reasons and expecting... I don't even know at this point.

They keep trying things, and yet nothing ever changes. Even the things they try. Even the way they try things. Especially the way they assess the performance of those things: good if I like it, bad if I don't.

I don't know what you mean, they have found yet another way to name exercise and CBT and package it with minor tweaks! That is the sort of change they can all get behind You would think they could only come up with one or two ways to name this but your wrong, they will find infinite ways to do the same things under different names and tiny tweaks.