Rare diseases, real opportunity: Why the UK’s next challenge is translation, not ambition
If the UK’s ambition is clear, how can it better translate scientific progress into meaningful patient benefits?
The UK Government has placed life sciences at the heart of its growth agenda, as outlined in the Life Sciences Sector Plan to drive investment, innovation, and better health outcomes, recognising that the sector can contribute to both improved health outcomes and national prosperity. Recent investment figures reinforce this opportunity; the UK biotech sector achieved significant growth in 2024, raising £3.5 billion in investment, a 94% increase compared to the previous year.1
Yet, investment and science are just the beginning. To sustain growth and global competitiveness, the UK must demonstrate the meaningful patient benefits that innovation brings.
Innovation encompasses how we identify unmet need, generate evidence, understand patient experience, and ultimately ensure advances reach those who may benefit. Recent progress demonstrates much-valued momentum and also highlights the unrealised potential of the sector that the UK Government has called “one of our greatest national assets.”2
Rare diseases as a test case for UK innovation
Rare diseases in particular expose a gap between innovation and impact. Despite scientific advances, only 5% of rare conditions currently have an effective treatment, and just over a third of licensed orphan medicines are fully accessible to NHS patients.3
Evidence shows that improving access to innovative rare disease treatments could deliver up to £4.4 billion in lifetime health benefits for people living with rare conditions and generate £19 billion in productivity gains over 10 years.4
One rare disease example is hypoparathyroidism (hypopara), an endocrine disease that can have a significant impact on health-related quality of life, physical functioning, and psychological wellbeing.5, 6, 7 The condition can affect many daily activities – in a survey of 42 people living with hypoparathyroidism, 43% said that the condition interferes with their ability to work, and 67% weren’t able to do as much as they used to / want to. As such, improving hypopara care could unlock societal and economic benefits if those individuals were able to return to work and community activities, however, reimbursement decisions in the UK do not consider work productivity or societal benefits.
Advances in rare disease treatment are driven by understanding patient experience and unmet needs, as well as advances in drug development technologies that help improve how therapies work. For companies working in rare disease, the challenge is not only to develop new approaches, but to also support their appropriate understanding, assessment, and adoption.
Why patient access drives investment
The countries that attract life sciences investment are increasingly those that offer an environment where innovation reaches patients. Investors look beyond scientific excellence alone, seeking environments where patient access is efficient and effective. The UK has unique strengths in this area: academic excellence, genomics leadership, and a single-point-of-entry national healthcare system.
European Federation of Pharmaceutical Industries and Associations’ (EFPIA’s) annual Patients W.A.I.T. (Waiting to Access Innovative Therapies) Indicator measures wait time for inclusion of a centrally-approved medicine on the public reimbursement list in a country. The 2026 report demonstrates an enormous 88% disparity between the longest and shortest wait times in Europe – between Romania and Germany, respectively.8 Germany has the shortest wait time at 56 days, with England lagging behind with a 282-day wait.
Improving patient access requires focus across the entire innovation pathway, starting with discovery as the first step. New technologies must also be supported through clinical development, assessment, adoption, and access to ensure patients can experience their full benefits. Industry has an important role to play in helping strengthen this ecosystem – by investing in partnerships, evidence generation, and health system readiness. Ascendis Pharma UK sees the UK as both a strategic innovation hub and an important partner in advancing care for rare disease communities.
Innovation is evolving faster than assessment frameworks
Regulatory, evaluation, and reimbursement systems have traditionally been largely designed around more traditional medicines. However scientific innovation has significantly evolved. Increasingly, health systems are needing to evolve their systems to evaluate innovative technologies, while also considering the overall value and ensuring there is appropriate investment to support equitable access.
Current assessment frameworks and measures (e.g., QALY-based models) may undervalue innovation. The standard GRADE (Grading of Recommendations Assessment, Development, and Evaluation) approach prioritises large randomised controlled trials. It is important for health systems to recognise meaningful clinical benefit beyond these traditional endpoints and evaluation methods, and adapt to evolving evidence standards. Rare diseases are a case in point, where population size and disease trajectories make the process of bringing new innovations to patients more challenging. It is time that consideration is given to the total evidence package, including societal impact and value, not limiting evaluation to restrictive criteria.
Closing the “translation gap”
The UK has the science, the talent, and the investment. The next step is ensuring that innovation translates into timely patient impact – because this will ultimately define and sustain UK leadership in life sciences. By creating an environment that recognises and rewards innovation – including new technologies and approaches to care – the UK has an opportunity not only to improve outcomes for patients, but to strengthen its position as a global leader in life sciences. Achieving this will require sustained collaboration across the entire innovation pathway. Industry has an important role to play alongside government, the NHS, researchers and patient communities.
References
[1] UK BioIndustry Association. UK biotech accelerates growth with £3.5 billion investment surge. Available at https://www.bioindustry.org/resource/uk-biotech-accelerates-growth-with-3-5-billion-investment-surge.html. Accessed August 2026.
[2] Gov.uk. Life Sciences Sector Plan. Available at https://www.gov.uk/government/publications/life-sciences-sector-plan/life-sciences-sector-plan. Accessed August 2026.
[3] ABPI. The UK should seek to be a European leader for rare disease medicine, says new report. Available at https://www.abpi.org.uk/media/news/2026/april/the-uk-should-seek-to-be-a-european-leader-for-rare-disease-medicine-says-new-report/. Accessed August 2026.
[4] ABPI. The UK should seek to be a European leader for rare disease medicine, says new report. Available at https://www.abpi.org.uk/media/news/2026/april/the-uk-should-seek-to-be-a-european-leader-for-rare-disease-medicine-says-new-report/. Accessed August 2026.
[5] Brandi ML, et al. Management of Hypoparathyroidism: Summary Statement and Guidelines. The Journal of Clinical Endocrinology & Metabolism. 2016 Jun 1;101(6):2273–83.
[6] Brod M, et al. Living with hypoparathyroidism: development of the Hypoparathyroidism Patient Experience Scale-Impact (HPES-Impact). Qual Life Res. 2021 Jan;30(1):277-291. doi: 10.1007/s11136-020-02607-1. Epub 2020 Aug 24. PMID: 32833143; PMCID: PMC7847873.
[7] Kontogeorgos G, et al. Low health-related quality of life in hypoparathyroidism and need for PTH analog. Endocrine Connections. 2022 Jan 10;11(1).
[8] EFPIA. EFPIA Patients W.A.I.T. Indicator 2025 Survey. Available at: https://www.efpia.eu/media/mnfdwzax/efpia-patients-wait-indicator-2025.pdf. Accessed August 2026.
About the author
Ben Whitehouse is the general manager of Ascendis Pharma UK and Ireland, where he and his team help advance innovative therapies for people living with rare endocrine diseases. With more than two decades of experience in the pharmaceutical industry, he has held senior commercial, marketing, and rare disease leadership roles across global and regional markets. Whitehouse is passionate about ensuring innovation translates into meaningful patient impact. He is particularly focused on advancing rare disease care through collaboration, evidence generation, and partnership working across the life sciences ecosystem. Prior to joining Ascendis Pharma, Whitehouse was head of rare diseases, UK & Ireland at Sanofi, and also held leadership roles at AstraZeneca and Eli Lilly.
