Advancing the future of rare disease diagnosis: Aspire4Rare's next chapter

There are moments in this work that stay with you. Sitting across from a family who has spent years - sometimes decades - searching for a name for what their child is living with. Watching the relief and grief arrive together when a diagnosis finally comes.

Knowing that every year of delay carries a cost no one should have to pay.

That is why I am proud to share that Aspire4Rare has published its diagnosis report today, 3rd September 2026. It is a structured tool and an evidence-informed contribution to one of the most persistent challenges in rare disease care.

What is Aspire4Rare?

Aspire4Rare is UCB's collaborative platform that supports the rare disease community to drive meaningful improvements in care.

The platform is designed to complement existing efforts, not duplicate them. We engage deeply with the work already underway across the community and contribute where we can add distinct value.

Where did Aspire4Rare begin?

When we launched Aspire4Rare at UCB, we were guided by a clear conviction: the rare disease community already has remarkable people, organizations and initiatives doing important work. What is often missing is not more activity in isolation but greater coherence and coordination across it.

From the start, we worked with experts from the community. Their efforts have laid essential foundations by building evidence bases, shaping research frameworks and connecting stakeholders across the ecosystem.

Our role has been to engage with those efforts and add value where we can. Diagnosis is one of those areas. It is not a new challenge, but it remains a deeply unresolved one.

Why does rare disease diagnosis take so long?

Rare disease diagnosis takes so long because of a web of interconnected barriers: delays in referral, limited access to specialist expertise, wide variation in testing pathways, fragmented healthcare systems and deeply unequal access to diagnostic technologies.

The average time to diagnosis remains somewhere between four and six years. For many conditions, it is far longer.

Most people working in rare diseases know the term "diagnostic odyssey." It describes the prolonged, often exhausting journey that patients and families take in search of answers.

What strikes me most is that this is not a single problem with a single solution. A patient in one country may receive a diagnosis within months. A patient elsewhere, with the same condition, may wait years - or never receive a diagnosis at all.

These disparities are not inevitable. Addressing them requires us to understand them clearly, to map where the system is failing and why and to build consensus around what needs to change.

What does the Aspire4Rare diagnosis report set out to do?

The Aspire4Rare diagnosis report gives a structured framework for understanding why diagnostic delays occur. It identifies their root causes across the healthcare system, highlights examples of good practice from around the world and proposes indicators to monitor progress over time.

The report is the result of sustained engagement with a multidisciplinary group of experts - clinicians, patient advocates, researchers and policy specialists - who brought both expertise and lived experience to the work. I am genuinely grateful to each of them for their time, their honesty and their commitment.

Together, we identified the root causes of delay across different parts of the healthcare system. We also highlighted places and programs where things are working better, and where we can all learn something.

The report proposes indicators to monitor progress over time. One of the persistent frustrations in rare disease policy is that we often lack the data to know whether things are improving. Building shared measures of diagnostic performance is not a glamorous endeavor, but it is a necessary one.

Why is this a timely contribution?

In 2025, the World Health Assembly adopted a Resolution on Rare Diseases. This landmark moment establishes rare diseases as a global health priority and calls on the WHO to develop a 10-year Global Action Plan.

The rare disease community has advocated for this over many years. Its adoption reflects how far our collective voice has come.

Rare Diseases International and its global taskforces are already working to inform the content and ambition of that plan. The Aspire4Rare diagnosis report is intended as a contribution to that process - a resource that policymakers, health system leaders and advocates can draw on as they shape what a meaningful, measurable commitment to improving diagnosis should look like.

We are not claiming to have all the answers. What we are offering is a rigorous, collaborative and actionable perspective on a problem the Global Action Plan will need to address directly.

The power of working together

I have spent enough time in rare disease policy to know that no single organization - however committed - can move the needle alone. The scale and complexity of what we face demands something different: genuine partnership, shared goals and the willingness to build on each other's work rather than start from scratch.

That philosophy runs through everything Aspire4Rare does. It runs through this report.

What gives me hope is that I see it reflected in the broader community too. The momentum around the WHO Global Action Plan, the growing sophistication of patient advocacy networks, the expanding role of genomics and digital health in diagnosis - these are real reasons for optimism.

But hope is not a strategy. Progress in rare disease diagnosis will require coordinated, systems-based action across governments, health systems, industry, researchers and patient communities. It will require investment in infrastructure, in training and in equitable access to technology. And it will require us to keep centering the experiences of patients and families in every decision we make.

An invitation to engage

If you work in rare diseases - in any capacity - I encourage you to read the Aspire4Rare diagnosis report. Not because we expect everyone to agree with every recommendation, but because the conversation it is designed to start is one we urgently need to have.

And if the work raises questions, challenges or ideas for you, I would genuinely welcome the dialogue. This is precisely the kind of collaborative exchange that makes the work better.

Where can I read the Aspire4Rare diagnosis report?

You can access the full report here.