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How can we deliver more effective treatments for rare conditions?

Every year, on the last day of February, the world unites in solidarity for Rare Disease Day. This day marks a crucial moment to raise awareness about the challenges faced by individuals living with rare diseases, their families, and the tireless advocates who fight for their well-being.

By Dr Chris Rice

The history of Rare Disease Day stretches back to 2008, when a handful of countries came together to bring attention to this often-overlooked community. Since then, the movement has grown exponentially, with over 100 countries participating in awareness campaigns, fundraising events, and advocacy efforts worldwide.

Living with the invisible

For the estimated 300 million individuals living with rare diseases worldwide, each day is a battle against the unknown. Rare conditions, affecting fewer than one in 2000 people, are often shrouded in mystery, leaving patients and their loved ones feeling isolated and misunderstood.

The daily struggles are numerous. From navigating the complex healthcare system to enduring physical and emotional pain, rare disease patients face a constant uphill climb. Misdiagnosis or delayed diagnosis is a common hurdle, as symptoms can be mistaken for other conditions or simply not recognised at all. This delay can have devastating consequences, leading to missed opportunities for treatment and a decline in quality of life

Access to treatment: a mountain to climb

Even after a diagnosis, the path to effective treatment is often fraught with challenges. Many rare diseases have limited research and development, resulting in a lack of readily available therapies. The high cost of specialised treatments further adds to the burden, leaving many patients struggling to afford the care they desperately need.

In its Rare Diseases programme, Public Policy Projects (PPP) is engaging with stakeholders from across the rare diseases landscape to understand what the UK can do to increase the provision of effective treatments to rare disease patients. Whether that is through increasing the existing infrastructure to develop new cell and gene therapies, amending the regulatory framework to speed up the approval of novel therapies, or by increasing the ability to re-purpose existing approved medications for use with rare conditions. By engaging with policymakers, regulators, researchers, and rare disease patients themselves, PPP is seeking to produce actionable insights to improve the delivery of effective treatments.

On the 27th February, PPP convened the first of these roundtable discussions, hearing wonderful insight from experts from across the rare disease landscape. The topic of this first roundtable concentrated on the potential of repurposing existing therapeutics to lower the barriers for adoption of treatments for rare conditions. There was invaluable insight shared by NICE on the regulatory challenges around the repurposing of these treatments, and expert input from clinicians, researchers, patient advocates, and industry groups. The outcomes of this meeting will form part of the PPP Insights report into Rare Diseases, due to be published later in the year.


Hope on the horizon

Despite the immense challenges highlighted in the PPP roundtable discussion, there are rays of hope shining through. Recent years have witnessed significant advancements in rare disease research. The development of new technologies like gene editing and personalised medicine holds immense promise for more accurate diagnoses, targeted therapies, and even potential cures.

Increased global collaboration and advocacy are driving policy changes and fostering a more supportive environment for rare disease patients. At future roundtable discussions, we will hear from health leaders who will propose additional solutions that can be adopted specifically in the UK.

A future where nobody is left behind

The fight for a brighter future for rare disease patients is far from over. Continued investment in research, improved access to diagnostics and treatments, and greater public awareness are all crucial steps towards a world where individuals with rare diseases can live full and fulfilling lives.

Rare Disease Day is not just a day of awareness; it is a call to action. It is a reminder that even though these diseases may be individually rare, collectively, they affect millions. By working together, we can build a future where no one feels alone in their fight, where every individual has access to the care they deserve, and where hope truly becomes a reality for all.

The PPP Rare Diseases programme will continue with roundtables on Thursday 4th April 3-4.30pm UTC, and Thursday 16th May 3-4.30pm UTC. If you work in healthcare and would like to find out more about this programme and how to join these roundtable discussions, please contact me at

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