Rare Disease Day: Prevention can be the most powerful treatment of all

The ABPI’s Director of Regulatory and Early Access Policy Dr Dan O’Connor, reflects on the need for greater investment in prevention, as well as the need for equity, for this year’s Rare Disease Day.

Rare Disease Day is a moment to focus on conditions that, individually, affect small numbers of people, but collectively touch the lives of millions of families across the UK and around the world. This year’s theme of equity - of diagnosis, access to treatment, and equity of outcomes - gives us an opportunity to talk about something genuinely transformative: prevention.

Around 80 percent of rare diseases have a genetic component. [1] For decades, that statistic has felt daunting - an explanation of why alongside other challenges, rare diseases are difficult to diagnose and develop effective treatments. But today, thanks to extraordinary advances in science and medicine, it can also be a source of hope. If we can identify the genetic component of rare diseases early enough, we have a real chance not just to treat, but in some cases to prevent - stopping symptoms from appearing.

That is a profound shift in thinking. Traditionally, healthcare responds once disease is already present. But in rare diseases, as with other conditions, waiting comes at a high cost - delayed diagnoses, irreversible damage, and lost opportunities for intervention. Better prevention in rare diseases offers a different future for the patient, for families and for public health.

We are already seeing what this future could look like. Take spinal muscular atrophy (SMA), a rare genetic condition that affects babies and young children. Left untreated, SMA can cause severe muscle weakness and is life-limiting. Today, we have reliable genetic tests that can identify SMA at or before birth, and we have treatments that if given early enough, can help stop the disease in its tracks. In places where newborn screening for SMA is in place, children are growing up stronger and healthier, with opportunities that would have been unimaginable just a few years ago.

Another example is Huntington’s disease, a rare inherited condition that usually affects adults later in life. A genetic test can tell someone, with certainty, whether they will develop it. While this knowledge is deeply personal and must always be handled with care, it opens the door to earlier monitoring, better planning, and crucially, participation in research and emerging therapies to delay or even prevent onset.

In both cases, the science exists. The tests exist. Increasingly, the treatments exist. But that is sadly not true for the majority of rare conditions – 95 percent have no treatment at all. [2] We therefore need new and better ways to diagnose, and to develop and access treatments and prevention therapeutics. As part of the solution, new regulatory approaches that recognise the unique challenges can help speed up their development, approval, and implementation at scale.

In order to help progress the prevention field, we recently published a paper in Nature Reviews Drug Discovery [3] which makes this point clearly; Unlocking the potential of disease prevention through regulatory science. In simple terms, it argues that preventive medicines need a more tailored regulatory and access framework, while embracing innovative methods like in-silico tools, real-world data, and new clinical trial designs. We recommended closer collaboration across regulators, industry, academia, and countries, plus targeted incentives, and international harmonisation, to make preventative medicines viable and scalable.

What we didn’t have in this paper was the need to also address inequalities, so that access to screening and treatment does not depend on where you live, your background, or how well your symptoms are recognised. This is where Rare Disease Day’s focus on equity really matters.

Of course, prevention may not be possible for every condition, and genetic information must always be handled ethically, with consent and support. But the direction of travel is clear: earlier, smarter, more preventive care is both achievable and necessary.

If we invest in prevention today, tomorrow’s Rare Disease Day could be not only about managing rare conditions, but about celebrating the fact that some never had the chance to take hold. That is a future worth striving for.

References

[1] - Genomics England, Rare Disease Genomics, accessed February 2026

[2] – The Lancet, The landscape for rare diseases in 2024, March 2024

[3] – Daniel J. O’Connor, Alison C. Cave, Alejandro F. Frangi, John Hardy, James Kennard, Kathryn Goodey, Virginia Acha, Deb Lancaster, Paul Fisher, Natalie Schmidt, Sheuli Porkess & Alice Fabre, Unlocking the potential of disease prevention through regulatory science, Nature, February 2026