The chief executive officer of LifeArc explains what we need to do to turn discovery science into patient benefit and why the UK has the potential to position itself as a market leader for rare diseases. 

Rare diseases affect approximately 3.5 million people in the UK, a patient cohort equivalent to the national cancer population, yet one where only 5% of conditions have approved treatments. Beyond the human impact, recent Medicines and Healthcare products Regulatory Agency (MHRA) estimates place the combined healthcare and wider economic cost of rare diseases to the UK at nearly £19.6 billion a year. Combined with the rising global threat of antimicrobial resistance, the imperative for targeted healthcare delivery has never been higher.

Addressing these twin challenges requires a shift in how translational science is funded, regulated and trialled. As chief executive officer of LifeArc, Sam Barrell is directing capital into creating end-to-end clinical trial frameworks, joining up paediatric datasets, and pioneering adaptive regulatory pathways designed specifically for small, tailored patient populations.

Here, she breaks down why rare is not rare, how LifeArc is deploying £40 million into national rare disease trial acceleration centres, and what the UK must do to cement its position as a global life sciences hub.

 

The UK is strong in early-stage science but often struggles to translate that into patient benefit. Where is the system breaking down? Which bits aren’t working? Where do we get it wrong?

It is clear that our investment mechanisms are currently missing the mark.

As you rightly say, our discovery science in the UK is world-leading. Unfortunately, the available funding mechanisms are severely limited. This gap exists largely because the financial incentives are misaligned. Venture capital firms considering investments in early-stage biotechs or academic spin-outs require a clear prospect of future return. At this early stage of research, the risk of a project failing to reach the bedside remains exceptionally high. Because VC firms are navigating such high risk, intense competition for capital ensues. This means that only a small fraction of projects secure funding, even when the underlying science is immensely compelling. 

The second major issue lies in our regulatory pathways. Where rare diseases are concerned, regulatory frameworks have historically been built around common, high-prevalence conditions. Yet rare diseases follow an entirely different trajectory. We need a far more bespoke approach to regulation that accounts for the fact that many of these patients will ultimately require personalised medicine.

The encouraging news is that the MHRA fully recognises this gap. It has recently launched a consultation on a specialised regulatory framework for rare diseases to make the approval process more adaptable, flexible and responsive to personalised therapies.

Rare diseases

The MHRA’s proposed Rare Disease Therapies Framework sounds promising, but what will it actually change for patients?

Overall, this represents a hugely promising step forward and a significant improvement on where we were previously. We will see how the consultation unfolds. However, one key limitation we see lies in the definition of rare disease itself. A rare disease is standardly defined as affecting one in 2,000 people or fewer. The MHRA’s current consultation framework, however, sets the threshold at an incidence of one in 50,000 – which pushes the scope firmly into the ultra-rare category.

We would certainly like to see that definition broadened. 

The other critical challenge is overall system integration. While a more tailored, expedited regulatory process is a vital improvement, it cannot exist in a vacuum. What we ultimately need is for NICE and other reimbursement bodies to align with those regulatory decisions. Without that join-up, we risk situations where a breakthrough therapy receives regulatory approval, but never actually reaches NHS patients.

 

“When the science is clear and the initial funding is secured, developers hit a wall with regulatory processes and data collection.”

 

 

What does effective collaboration in rare diseases actually look like between academia, industry, charities and the NHS? It all comes down to money, doesn’t it?

While funding is undoubtedly relevant and important, it is by no means the only barrier.

Financial capital goes further in rare diseases than in standard drug development. Running a clinical trial for a rare disease does not require the £50 million to £100 million budgets typical of massive, multinational cardiovascular pharma trials. Because patient cohorts are significantly smaller, a targeted trial might cost us around £5 million. The primary bottlenecks are actually the regulatory and reimbursement pathways.

One might assume that scientific understanding is the principal bottleneck, but that is no longer the case. While gaps remain for certain conditions, there is a substantial subset of rare diseases where the underlying biology is fully understood, and where proven scientific modalities – such as gene editing or gene therapy – already exist to address them.

When the science is clear and the initial funding is secured, developers hit a wall with regulatory processes and data collection. Trying to generate conventional clinical evidence across a small, highly fragmented patient population scattered across multiple international jurisdictions simply does not work.

Instead, we need an entirely different approach. That means adopting adaptive trial designs, deploying real-world data, exploring digital twins and using post-market surveillance after treatment has started. The fundamental risk profile for these conditions is entirely different: patients facing life-threatening or severely disabling rare diseases often have a far higher risk tolerance for novel therapies than a patient taking long-term preventative medication for a common condition like high cholesterol.

 

In rare diseases, small patient populations make traditional trials difficult. How do you manage those trials? 

What matters just as much is reforming regulation, modernising trial design and accepting alternative data gathering methods tailored to these conditions. This is not about compromising on safety; it is about gathering clinical evidence in a fundamentally different, more adaptive way than traditional pathways allow.

Part of that challenge is locating the patients who could benefit from these trials and creating connected data networks. Right now, health datasets remain incredibly fragmented – not just in the UK, but globally.

Fortunately, several brilliant initiatives are underway in the UK to address this. Health Data Research UK is working to establish a far more joined-up health data ecosystem. We have long-standing resources like UK Biobank, as well as Our Future Health – where LifeArc is a founding charitable partner – which is making fantastic progress in building datasets to identify rare disease cohorts.

 

“If the MHRA can fully enact its new regulatory framework, the UK will quickly become a far more attractive destination for life sciences development.”

 

 

How do you ensure patients, particularly in rare diseases, are part of that collaboration, not just an afterthought?

Our immediate priority must be connecting data within the UK. The government has signalled its commitment to this through Health Data Research UK, but our focus at LifeArc is ensuring rare disease datasets are specifically integrated.

Currently, the National Rare Disease Registration Service is not linked to NHS DigiTrials, meaning that researchers using DigiTrials cannot pull comprehensive rare disease data. Furthermore, paediatric rare disease records remain trapped in separate hospital silos.

To break down these barriers, LifeArc has committed £40 million to build infrastructure across four specialised rare disease centres in the UK. We have established a dedicated centre focusing on rare respiratory conditions in Edinburgh, rare kidney diseases in Liverpool, and rare mitochondrial disorders in Cambridge. The fourth initiative – spanning Newcastle, Belfast and Birmingham – is focused directly on rare disease trial acceleration.

This fourth centre is building an end-to-end delivery framework to accelerate rare disease trials. This initiative is establishing a central national portal for rare disease patients across the UK. Patients can register voluntarily and indicate their willingness to travel for clinical studies. Specialist centres can then access this portal to match eligible patients with relevant trials. The team has already engaged with key NHS R&D hospitals to secure nationwide participation.

Simultaneously, we are tackling administrative friction by establishing umbrella contracting agreements across NHS trusts. Currently, sponsors must negotiate separate contracts with every participating hospital. Developing a unified contract for participating trusts will streamline setup times significantly. Speed is essential here; patients facing life-altering conditions simply cannot afford to wait years for a diagnosis or trial placement.

If we modernise the UK’s rare disease infrastructure, we achieve a double benefit. We deliver immediate improvements for UK patients while establishing the country as a premier global hub for precision and personalised medicine. That, in turn, will encourage life sciences companies – many of which currently look elsewhere – to choose the UK as their primary destination for clinical development.

Rare diseases

We featured Basel as a research hub recently. What would make a company choose the UK over the US or EU for developing a new rare disease therapy today?

The UK certainly has the potential to position itself as a market leader. Although LifeArc is rooted in the UK, our mission is global: we want to deliver real-world impact for patients with rare diseases wherever they are, and we will operate wherever necessary to achieve that. That global perspective forces us to evaluate different jurisdictions continually – we are constantly asking whether a project is best pursued in Europe, the US or the UK.

Right now, every region presents its own set of advantages and drawbacks. However, if the UK moves quickly to resolve its current friction points, I believe it can take the lead. It is not just LifeArc driving this effort; partners like Genetic Alliance UK and many others across the sector are working to create an environment capable of accelerating patient impact.

The next three years will be pivotal. If the MHRA can fully enact its new regulatory framework and begin applying it in real time, and if we can initiate a broader rethink of reimbursement pathways while embedding our end-to-end trial acceleration platform, the UK will quickly become a far more attractive destination for life sciences development than competing markets.