Avril Daly brings a rare dual perspective to Europe’s rare disease and ophthalmology landscape: as CEO of Retina International, she represents patients living with retinal diseases, and as President of EURORDIS she advocates for the wider rare disease community across Europe — all while living with retinitis pigmentosa (RP) herself. With Europe in the midst of sweeping legislative change, from the new pharmaceutical package and Biotech Act to the Critical Medicines Act and a proposed European Action Plan for Rare Diseases, Daly discusses the promise of gene therapies and next-generation diagnostics, the structural barriers still facing rare eye disease patients, and why she believes Europe’s rare disease community is finally moving from raising problems to building shared solutions.
Could you tell us about your journey into patient advocacy?
My background is in communications and journalism, and I had always wanted to work in political advocacy. I was diagnosed with retinitis pigmentosa at 23 – it was picked up during a routine eye exam when I went to get my driver’s licence. I was told it was rare, genetically inherited, likely a recessive gene running through the family, and that the prognosis was bad: I would lose my vision, though nobody could tell me when. I’d had night blindness and trouble adjusting between light and dark since childhood, so looking back there’d been signs, but the diagnosis itself was pretty brutal.
I was fortunate to be referred to a centre of expertise run by a local charity, where I met a wonderful ophthalmologist specialising in the retina, who told me about the research and innovation happening in the field. I was fascinated to learn that the first gene identified as a cause of retinitis pigmentosa had actually been discovered here in Dublin, at Trinity College.
A couple of years later, I saw an advert for a public affairs role at Fighting Blindness, an Irish charity. I applied, without mentioning my own diagnosis until quite late in the process. What drew me in was learning about the potential to address a fundamental problem through research and innovation. Friends and family asked whether I really wanted to work somewhere so close to my own diagnosis. My answer was always yes – I wanted to know what was happening, to be involved.
Once I started at Fighting Blindness, I was quickly exposed to the global retinal research community, and to the advocacy happening at a European level around orphan drug legislation – which at the time was new territory. Having received my own diagnosis quickly, I became fascinated by the complexity other rare disease patients faced in simply getting a diagnosis, and by what the retinal disease community could learn from other rare disease groups – what challenges were shared, what were specific, and what we’d need to understand to accelerate the journey from bench to bedside. So, it started from a personal place and grew from there into a much broader role.
There is increased investor interest in ophthalmological disorders, but it remains an under-reported area within healthcare. What are the specific challenges facing the patients you represent at Retina International?
It is a misunderstood and undervalued space within the healthcare system. Ophthalmology is often treated as a poor relation in healthcare; until fairly recently, it was roughly where oncology was 30 years ago. If something was wrong with your eye, it meant surgical intervention; innovation wasn’t really part of the picture, even though we’ve had therapeutics like anti-VEGF treatments for wet AMD and diabetes-related eye disease for 20 years.
There’s also a structural problem: people living with rare eye and retinal diseases aren’t technically “sick” in the way the healthcare system defines it. They’re not a burden on acute healthcare – what they actually depend on is social care, support services, and rehabilitation.
What matters to these patients is also misunderstood. A sighted person might assume that a therapy for progressive retinal degeneration should mean someone no longer needs a guide dog or a white cane. But if you ask people living with these conditions what would be meaningful to them, many would say: simply arresting the condition where it is now – even at just five percent vision – would be a huge win. These conditions aren’t immediately life-threatening, the way cancer is, but they are life-changing and life-altering.
Demonstrating that value clinically – visual function versus functional vision – is a real challenge when it comes to advocating for better diagnosis, better outcome measures in therapeutic development, and care more broadly. It means the onus falls on us as a patient community, together with engaged retinal specialists and researchers, to demonstrate that value.
Retina International has recently done a lot of work on the cost impact and burden of disease – not just on the individual, but on society as a whole – and it’s significant. We’ve also investigated the impact on wellbeing and mental health, and that effect is substantial too.
Are you seeing growing receptiveness from European policymakers to these arguments?
Yes and no – but compared to 20 years ago there has been significant progress. We’ve taken the initiative to generate our own data demonstrating the scale and impact of the problem on both individuals and society. When we started, we were told there was no point doing studies to generate data in rare eye disease, because there was no data to speak of – but that absence was itself the finding.
What we discovered, once we looked for it, was a huge amount of impact, and that evidence has allowed us to have genuinely productive conversations with decision-makers – at European and national level, but also with clinicians, prompting them to reconsider how they think about these patients.
There’s real positive momentum in the legislative changes happening in Europe right now that put the patient at the centre of decision-making: patient experience data being embedded in the EMA’s processes, more emphasis on developing endpoints that reflect patient needs, and growing use of patient-reported outcomes and patient preference studies. We are seeing a shared understanding that involving the patient voice from the earliest conception of a research or therapeutic project through to application leads to better outcomes overall.
But I should be honest that this came from us as a frustrated community that felt misunderstood. The impact of our conditions wasn’t being recognised, and this was shaping research and development priorities. We had to take that initiative ourselves, running scientifically robust, ethically approved studies to demonstrate it. We could only do that because we did it as part of a global community – and unfortunately, not every rare disease community has that capacity.
In the past ten years we’ve seen gene therapies and other potentially curative, one-time treatments emerge for eye conditions. How much of a game-changer are these technologies for the patients you represent?
They are really significant. We’ve had a gene therapy for one form of inherited retinal degeneration that’s been genuinely life-changing – especially for younger people, where vision has effectively been restored in many cases. That’s remarkable, but it’s for one gene. When I was diagnosed, it was simply “RP” – now we know there are around 500 different genes involved, each complex in its own way.
The therapeutic pipeline for inherited retinal diseases is growing, with around 60 trials currently underway, and next year the FDA could potentially approve as many as six new therapeutics across different conditions. That’s huge for a population that’s historically been underserved with very high unmet need. It’s exciting to see that pipeline of innovation, whether cell therapy, gene therapy, or advanced therapeutics more broadly.
We’re hopeful, but also very mindful of the journey ahead for patients in Europe, and other jurisdictions outside the US, to get access to these treatments.
These products can run to hundreds of thousands of euros for one injection; how can that be sustainable?
These cost questions are exactly where our challenges lie, and it comes back to understanding what’s genuinely valuable. When therapies are in the pipeline and clinical trials are underway, are the endpoints regulators approve actually fit for purpose – will they demonstrate what matters to the patient? And are patient-reported outcome measures appropriate as well? If you asked me what the single biggest challenge Retina International sees right now, it’s endpoint development – surrogate endpoints, patient-reported outcomes – running all the way from the regulatory piece at clinical trial stage through to health technology assessment and access.
That said, I have seen real positive change in recent years, particularly since the gene therapy for LCA came through. There’s much greater engagement now between researchers, clinicians, and patient groups to identify and address these challenges collectively – and industry is part of that too. I’ve seen a real shift in industry reaching out earlier, to make sure the patient voice is built in from the start. So there are changes, and there are challenges – both are real.
The eye is one of the body’s most accessible organs, making it a prime target for testing new approaches without affecting the rest of the body. Beyond gene therapies, what other technological advances do you see as potential game-changers in ophthalmology?
I would start with diagnostics, which is critical for inherited retinal degenerations. With over 500 genes involved, a clinical diagnosis alone isn’t enough; you need a genetic diagnosis to understand the specific disease and its likely course. My own diagnosis at 23 wasn’t actually correct – I have a much milder form than I was told. The clinicians did their best with the tools available at the time, but that’s exactly the point: genetic testing is improving access to accurate diagnosis.
In a recent study we ran, around 75 percent of respondents had received a genetic diagnosis – a significant shift, and a real positive for the community, because it gives us a well-characterised patient cohort to work with as we navigate research and innovation.
On the therapeutic side, given how heterogeneous our community is genetically, I’m particularly excited by gene-agnostic therapeutics – ones with the potential to treat larger, broader patient populations rather than a single genetic subtype. Gene editing is another area we’re closely watching; the eye’s relative immune privilege makes it a good testing ground. Optogenetics is genuinely fascinating too, with real potential to transform both gene and cell therapy approaches.
Our patient community is very well informed about what these therapies can and can’t do – what receiving a gene therapy actually means in practice, how long the benefit lasts, whether it’s curative or an ongoing treatment. Those are the questions being asked and answered within our community, and people are engaging with them seriously. There’s a lot of novel work happening – things like retinal cross-species research are also developing at pace. Ultimately, the more people we can treat, the better, and that’s what excites us as a community.
You also serve as president of EURORDIS; what key priorities are you advocating for there?
As things stand, only around five percent of rare diseases have an approved treatment – this remains a highly underserved area with very high unmet need. But since the Draghi report in 2024, and subsequent reports calling for a more competitive Europe, we’ve seen real legislative movement. We were in Brussels when the pharmaceutical legislation was approved in December, and the Biotech Act is now being worked on – both hugely important for us.
Part of why this matters for rare diseases specifically is the need to bring clinical trials back to Europe. Globally, the number of clinical trials has increased by 38 percent since 2013, but Europe’s share of the total has shrunk from 22 percent to 12 percent over that period, representing a loss of around 60,000 clinical trial places here. Losing that many trial places matters directly for patients – clinical trials are, in many ways, a form of therapy in themselves for people with no other treatment options.
Especially in rare disease, where a clinical trial might be the only opportunity to access a particular therapy…
Exactly. Within the Biotech Act – the first phase of which focuses specifically on health – the Clinical Trials Regulation is also due for review, and that needs to move forward. We need to attract more investment into innovation and biotech in Europe. We understand regulation is necessary, but surely it can be made simpler. That way, Europe becomes a more attractive place for innovation – not just so we have access to it here, but so society benefits more broadly from what it brings.
On top of that, the Critical Medicines Act is another priority for us – particularly the question of what actually constitutes a “critical medicine.”
One might assume the Critical Medicines Act was more a concern for manufacturers of generics like painkillers, antibiotics, or vaccines. Why does it matter for the rare disease space?
In rare diseases, we’re often dealing with degenerative, time-sensitive conditions – many affecting children, and which are life-limiting. In that context, any delay in accessing an approved therapy has a real, life-limiting impact. And for disabling conditions like inherited retinal diseases, we’d argue these therapies should absolutely be considered critical medicines, and we think that consideration is warranted.
It’s also worth remembering that therapies for rare diseases aren’t only advanced therapies – standard-of-care medicines matter here too, including in the generic space.
Alongside this, the Medical Devices Regulation matters to us as well, particularly since more advanced therapies are delivered through drug-device combinations – the therapeutic and the delivery mechanism together. How those get reviewed and assessed is significant for our community.
The broader concern is that the legislative change happening in Europe simultaneously – the pharmaceutical legislation, the Biotech Act, the Critical Medicines Act, the Clinical Trials Regulation, the Medical Devices Regulation – is being developed in silos rather than holistically, when in reality each one affects the others. Across all of this change, we need to make sure everything that’s agreed works together to genuinely advance patients’ interests.
What’s your sense – is there genuine alignment across these initiatives, or are we still some way off?
I try to stay positive. There’s real recognition, when you talk to people at the Commission and MEPs at European level, that this is a genuine opportunity – they understand what’s at stake for Europe’s competitiveness. Where there’s more of a gap, in some cases, is at national level – among member states – in understanding what this legislation actually means in practice.
That recognition is evident in the current Irish presidency of the EU, which took over on 1 July and runs to 31 December, and has made competitiveness, innovation, and the Biotech Act explicit priorities. That gives us a real opportunity to push the dialogue that’s needed with member states. At European level, we recently held EURORDIS’s European Conference on Rare Diseases and Orphan Drugs in Prague, with 15 health ministries represented at a side meeting – real evidence of alignment and momentum to move Europe forward. But the devil is in the detail, and as a patient community, we’re working to keep our voice central to those conversations.
One thing I should mention, because it’s genuinely important for rare disease – and rare eye disease specifically – is the European Reference Networks. These are a one-stop shop for people with rare diseases: 24 networks in total, covering areas like skin, bone, metabolic and genetic disease, with one dedicated to rare eye disease. They’re an excellent tool for understanding patient populations, building registries, running natural history studies – all critical for innovation – as well as improving pathways to diagnosis and care.
Europe has these networks already in place; we just need to use them better and smarter. What we’ve advocated to the Commissioner and the Commission is that they properly recognise the potential these networks and institutions have – even where they’re not legal entities in their own right – to genuinely contribute to improving biotech and innovation in Europe.
These European Reference Networks should surely be a big selling point to industry globally…
They really should be – but they need proper support. We need stronger frameworks around these networks, which have had over ten years of investment but are still relatively nascent, still finding their feet. They need to be supported to achieve the potential they were set up for. Importantly, our networks are inherently cross-border – cross-border regulation itself needs improving, but these networks already lay the groundwork for much greater cross-border collaboration across Europe. There’s still a lot of work to do, for sure.
EURORDIS is advocating for a European Action Plan for Rare Diseases; why is such a plan necessary, and what do you hope it might achieve?
This stems from decades of advocacy around national rare disease strategies – going back to 1997. There was a European Commission communication around 2008, followed by a directive in 2009 requiring all member states to have a national plan or strategy by 2013, covering orphan therapies, research, diagnosis, and care. National plans became a reality across Europe by roughly 2013–2015, with different priorities depending on each country’s starting point.
But innovation does not just cover diagnosis and therapeutics, but delivery of care too – and that keeps evolving, so our frameworks need to keep pace. We already have strong European infrastructure in place: the European Reference Networks, and research initiatives like ERDERA (the European Rare Disease Research Alliance). What’s missing is a proper framework around all of this with dedicated funding, dedicated resources, and clear recognition of why it matters, for patients and for everyone working across the healthcare system, from providers through to researchers and innovators.
Our proposed action plan is grounded in a foresight study funded by the European Commission, where over 250 stakeholders came together to identify priorities for rare disease in Europe through to 2030 – that study has directly informed the framework we’re advocating for with the Commission, Commissioner, and MEPs. Since early this year, EURORDIS has also brought together a core group of stakeholders to develop a blueprint for this action plan, building on what the foresight study prioritised, and working through how it could realistically be implemented across national competences. It’s a major priority for the rare disease community across Europe right now.
What’s your wider message to the pharma industry about investing in rare disease innovation and engaging with patients in Europe?
The first thing I’d say to innovators across the board – in therapeutics, medtech, diagnostics – is: ask the patients. There are patient groups out there ready to support innovation, to help make sure we’re measuring what matters and delivering what’s meaningful. Listening and engaging is essential, and don’t be afraid to do it – it’s entirely possible within the regulatory framework. The EMA and the Commission both emphasise early engagement, and the earlier you engage, the better.
I know Europe is complex, and I hear from biotech companies and innovators outside the EU that it can feel daunting. My advice is to invest the time to understand it, and make your voice heard too – there’s real openness to listening right now. Europe has the population, much of the infrastructure, the networks, and the ability to work across borders. We’re working on how to make all of that better, so don’t give up on us.
We have a lot of work still to do, but I’m genuinely hopeful about our future as a community – though hope alone doesn’t do the work for you. We must keep having the conversations and airing differing views early so we can move forward faster.
I’ll leave you with one example. I sit on the board of Rare Diseases Ireland – a tiny organisation, but one that does a huge amount to change legislation at a local level. We recently held a cross-party meeting in our parliament, where young parents of children with rare diseases – some with access to therapy, some without – raised the same issues we’ve heard for years, but this time focused squarely on solutions.
What struck me was that they talked about the “architecture” being wrong for how innovation gets developed and accessed. Hearing parents, including a colleague of mine who is himself losing his vision to RP, engage with the substance of legislation and how it could shape our future, rather than simply asking for help for themselves individually, was remarkable. Having worked in this space for over 25 years, that shift – towards finding structural solutions together – left me feeling incredibly encouraged.
