Life Sciences A to Z - R is for Rare Diseases in the UK: An Overview of the Regulatory and Policy Landscape

For the millions of people in the UK living with a rare disease, the path to diagnosis and treatment can be long, frustrating, and isolating. Yet we are heading towards a pivotal moment for rare disease policy.

The UK government's landmark framework is entering its final phase, following a short extension to January 2027, regulatory reform is on the horizon, and advances in genomics and personalised medicine are opening doors that were previously closed. Against this backdrop, it is increasingly important to understand the current landscape—and what comes next.

The Department of Health and Social Care published its England Rare Diseases Action Plan 2026 (the “2026 Report”) earlier this year, which focusses this year on progress made into the 39 actions set under the lifetime of the UK Rare Diseases Framework (“Framework”) as it enters its final year. We provide an overview of the Framework, take a look at England’s 2026 Report, and detail upcoming policy and regulatory developments to be aware of.

What Are Rare Diseases?

A rare disease is defined in the United Kingdom as a condition affecting fewer than 1 in 2,000 people. It is currently estimated that there are over 7,000 rare diseases, with new conditions continually being identified as scientific research advances. While the prevalence of each individual condition is low, rare diseases are collectively common, affecting approximately 1 in 17 people at some point in their lifetime. This translates to more than 3.5 million people living with a rare disease across the UK.

The causes of rare diseases are varied. Approximately 80% have an identified genetic origin, whilst others may be caused by disordered immunity, infections, allergies, deterioration of body tissues and organs, or disruption to development during gestation.

Patients with rare conditions often face significant challenges in accessing diagnosis and care. The average time to diagnosis remains approximately 5.6 years, a period frequently referred to as the "diagnostic odyssey". Currently, only around 5% of rare diseases have an effective approved treatment, highlighting the enormous unmet need in this space.

The UK Rare Diseases Framework

The Framework identifies four central priorities for improving the lives of those affected by rare diseases:

Faster diagnosis: Ensuring patients receive a final diagnosis as quickly as possible, recognising that timely diagnosis can enable greater treatment choice, reproductive decision-making, and access to vital information and support.
Increased awareness of rare diseases among healthcare professionals: No healthcare professional can receive training on every rare condition. It is therefore essential that clinicians are provided with education and resources to help them recognise these conditions in patients.
Better coordination of care: Many rare diseases cut across multiple clinical specialties and care providers, leading to logistical challenges in accessing care, with inadequate access to a formal care coordinator.
Improved access to specialist care, treatment and drugs: Patients need access to expertise in the treatment and care of their rare disease, and there are opportunities to develop innovative models of care so that patients can receive care as locally as possible.

Supporting these priorities are five underpinning themes: patient voice, national and international collaboration, pioneering research, digital and data technology, and wider policy alignment. In England, a sixth cross-cutting theme of health equity has also been introduced.

The Framework is implemented through nation-specific action plans. England has published annual action plans since 2022, setting out detailed commitments and reporting on progress. The 2025 England Rare Diseases Action Plan introduced three new actions, with the 2026 Report introducing its only new action, to develop an approach to address the health inequality of rare diseases:

Establishing clinics for multi-system disorders within the NHS to reduce the number of individual appointments and the burden of care coordination on families.
Reforming clinical trials regulations to better support rare disease trials.
Developing an operational framework for individualised therapies in the NHS.
Addressing health inequalities for rare diseases through Core20PLUS5, a national NHS England approach to inform action to reduce healthcare inequalities at both national and system level

Recent Developments and Progress

Significant progress has been made under the Framework since its inception. Advances in genomics have been particularly transformative, with the 100,000 Genomes Project helping one in four patients with an undiagnosed rare disease receive a diagnosis for the first time. The NHS Genomic Medicine Service now offers whole genome sequencing as part of routine care, and the Generation Study is sequencing up to 100,000 newborn babies to screen for over 200 rare conditions where early intervention could alter outcomes. The 2026 Report indicates that two pilot clinics for children and adults with undiagnosed rare diseases will be operational by autumn 2026. These will look at conditions that are thought to have a likely genetic cause and/or where genomic investigations may help to clarify the cause of the patients’ and/or families’ rare disease

Investment in rare disease research continues to grow. The Rare Disease Research UK Platform represents a £14 million investment over five years from the Medical Research Council and NIHR. In December 2024, the MRC announced its first two centres of research excellence, which will receive up to £50 million each over 14 years to develop transformative new advanced therapeutics for currently untreatable diseases.

Future Changes and Developments on the Horizon

The UK Rare Disease Framework was originally due to conclude in early 2026 after five years. However, health ministers across the UK agreed a one-year extension until January 2027 to allow continued development of proposals for future approaches to rare disease policy in collaboration with the rare disease community and devolved administrations.

The additional year is focused on developing sustainable proposals for future rare disease policies. The 2026 Report notably set out how the NHS 10 Year Health Plan will work in practice to improve NHS care for people with rare conditions, with three fundamental shifts: from analogue to digital, from hospital to community where appropriate, and from sickness to prevention through earlier intervention. One key aspect will be the introduction of a single patient record which is due to go live from 2028. This development will be particularly beneficial for rare disease patients, who often have to repeat their medical history multiple times across different healthcare settings and to different clinicians.

At the same time the 2026 Report was published, the Department of Health & Social Care published its final summary paper reporting on delivery to date against all 39 actions set out in the England Rare Diseases Action Plan and capturing learning from commissioned monitoring and evaluation. This learning, alongside further engagement with the rare disease community, will form the basis of rare disease policy following the end of the Framework.

On the regulatory front, November 2025 marked the publication of the UK's commitment to further regulatory reform in rare therapy areas. A draft of the MHRA's new regulatory framework for rare therapies is anticipated this Spring 2026, which will invite public consultation. Key anticipated changes include:

Adaptive trial designs with more rare disease appropriate criteria and decision tools to enhance rare disease pathways and maximise small patient samples.
Greater leverage of real-world evidence to provide acceptable comparators when randomised controlled trials are not feasible.
Long-term follow-up plans to ensure ongoing efficacy and enhanced safety monitoring after approval.
Development of national rare disease registries to enable real-time data collection and capture longitudinal patient outcomes.
International data sharing practices alongside global rare disease registries to supplement smaller UK cohort sizes.

The MHRA is also actively exploring how artificial intelligence and machine learning technologies can be used to generate evidence for regulatory decision-making.

Substantial changes to the Medicines for Human Use (Clinical Trials) (Amendment) Regulations 2024 will also hopefully benefit the development of treatments for rare diseases. From April 2026, the UK has moved away from the current "one-size-fits-all" approach in clinical trials, adopting ICH Good Clinical Practice (GCP) principles into UK law; relying on international ethical and scientific quality standards to incorporate provisions for greater flexibility in rare disease trial recruitment.

Looking forward

The UK has made significant strides in addressing the needs of people living with rare diseases through the Framework and associated action plans. Progress has been achieved across all four priority areas, and the extension of the Framework until 2027 demonstrates continued governmental commitment to this agenda. The regulatory reforms from the MHRA, combined with advances in genomics and personalised medicine, present significant opportunities for life sciences businesses and, most importantly, for the patients of rare diseases who will benefit from faster access to innovative treatments and support.

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