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The pandemic is a moment to press on, not step back from the changes needed to help those with rare diseases

Owen Marks
Head of Rare Diseases, Pfizer UK

16th March 2021

The world needs some grounds for optimism right now. And the UK’s rare disease community – those 3.5m people1 who’ve waited a long time for good news – has every reason to be hopeful.


We’re within touching distance of realising a new era of advanced medicines that has been on the horizon since I was at university. Transformative gene therapies have the potential to truly change lives, offering a brighter future for the next generation of the rare disease community.

But, developing and testing the medicines is just one piece of the puzzle; we must ensure our health care professionals, infrastructure and the system which appraises them are ready to bring these breakthroughs to patients. The pace of change has been slow – you’ll find me discussing concerningly similar topics on this very site in early 2019. But, the publication of the Government’s Rare Diseases Framework is a welcome step in the right direction, outlining the UK’s priorities in meeting the needs of those defined as ‘rare’, despite the community being several million strong.1

The framework sets out four big priorities for the next five years: helping patients get a final diagnosis faster, increasing awareness of rare disease among healthcare professionals, better coordination of care, and improving access to specialist care, treatments and medicines. I’m particularly reassured that the Framework calls on all four nations of the United Kingdom to deliver a plan to address the key challenges in this space.

The rare disease community and its allies have campaigned for equity of care over many years – why should someone unfortunate enough to be born with a rare disease also be actively disadvantaged in the system we have created?

This point is very close to home for me; like many parents, I know only too well the deep sadness of struggling to get a diagnosis for my child, only to be left with no treatment options. But for many loved ones of those with a rare disease it is even more challenging as treatment options are in fact available that may help…they just do not have access to them yet! We have to change this, and while a new Framework won’t achieve this alone, it can be a measurable, objective-led driving force so the next time I share my thoughts on here, we’ve made real progress.

Scientific innovation must be matched with fresh thinking about how these medicines are accessed. This is where I believe the hard-won learnings from COVID can accelerate this journey and close the rare disease gap.”

The UK Rare Disease Framework priorities:

Priority one in the framework is to help patients get a diagnosis faster. The term ‘diagnostic odyssey’ has been used countless times for many years to describe the reality for many families impacted by a rare disease. Patients can wait many years for a diagnosis,2 and the Framework emphasises the importance of new genomic approaches and diagnostic tools to reduce this. There are also plans to make it easier to return findings from research to better inform clinical practice.

We welcome this at Pfizer, where we’ve invested significantly in an increase in development and uptake of diagnostic tools – in fact, we are currently looking at how we can harness AI to support health care professionals (HCPs) in faster diagnosis of rare forms of heart failure.   

But these tools are only useful to HCPs who know about them, and the second priority is that all-important work of raising awareness of rare diseases amongst HCPs. Pharmaceutical companies have a huge role to play here and, through collaboration, our voice can be used as an asset to support this priority.

And, collaboration is exactly what is at the heart of the third priority in the Government’s Rare Diseases Framework – ‘joining up’ the patient journey, using advances in tech and digital tools to bring multi-disciplinary teams together.

We’ve seen first-hand how effective digital technology can be in supporting the patient journey. Our Haemo Hero app – designed to support children with haemophilia – has seen children take on virtual challenges around the home, learning about household hazards, appropriate exercise and better control of their condition.

The fourth priority is perhaps the most significant, and arguably where most improvement is needed. The Government’s vision here is “for rare disease patients to have improved access to specialist care, treatment and drugs” – a vision we wholeheartedly share.

We believe that, whilst some diseases are rare, treating them shouldn’t be. This is the simple truth behind our investment in an ongoing pipeline of treatments.

However, such scientific innovation must be matched with fresh thinking about how these medicines are accessed. This is where I believe the hard-won learnings from COVID can accelerate this journey and close the rare disease gap. This belief is reflected in the MHRA’s new Innovation Licensing and Access Pathway which represents a totally new way of thinking and is a truly collaborative approach between the healthcare system, the pharmaceutical industry and patients with the common goal of getting the best medicines to the people who need them. At its simplest, we’ve seen that where there’s a collective will, there’s a way.

And now is our moment to come together; amongst the heartache and loss the past year has brought us all, we’ve also seen how much can be achieved when people collaborate with conviction. We’ve set a high bar, and the community will rightly expect the same sense of urgency brought to bear on rare diseases.

The pandemic is a moment to press on, not step back. I for one don’t want to let them down.



  1. DHSC. The UK Rare Diseases Framework. 9th January 2021.
  2. Global Genes. RARE Facts - Global Genes. Accessed 23rd February 2021.


PP-PFE-GBR-3430 / Feb 2021