Policy paper

England Rare Diseases Action Plan 2026: main report

Published 27 February 2026

Applies to England

Ministerial foreword

Last year, one of my first engagements as minister was at a parliamentary reception to mark Rare Disease Day, hosted by Genetic Alliance UK. Listening to the stories of people from across the rare disease community, both at that event and since, has made it clear to me that there remains unmet need in the health system when it comes to rare diseases.

The time taken to receive a diagnosis remains a years-long journey for many people living with rare conditions and those who care for them. Too often, people find themselves repeating their stories and needs to healthcare professionals. Different services and specialties are not sufficiently joined up to deliver quality, lifelong care. And just 5% of rare conditions have an approved and effective treatment.

These are all complex challenges to address, and we need a system-wide approach. Challenges like these are why this government published the 10 Year Health Plan for England, setting out our mission to build a health service fit for the future.

This year’s England Rare Diseases Action Plan sets out how the 10 Year Health Plan will work in practice to make the NHS work better for people with rare conditions, through 3 fundamental shifts: from analogue to digital, from hospital to community where appropriate, and from sickness to prevention through earlier intervention.

It also sets out progress being made in the here and now, across our delivery partners, to change the system for rare diseases - like the Medicines and Healthcare products Regulatory Agency’s position paper on creating a facilitative regulatory system for new therapies, and the National Institute for Health and Care Excellence’s publication of a new quality standard for rare diseases.

In autumn last year, ministers from all 4 nations of the UK agreed to extend the UK Rare Diseases Framework to 2027. During this year, we will engage with the rare disease community to develop ambitious proposals for making tangible changes to people’s daily lives, as well as encourage world class research and innovation in the UK. And finally, I would like to thank advocacy organisations, people living with rare conditions and those who care for them for reaching out to me so far, and I look forward to continuing our work together.

Ashley Dalton MP

Parliamentary Under-Secretary of State for Public Health and Prevention

Executive summary

This document sets out progress made in England against the 4 priorities of the UK Rare Diseases Framework, which was developed following a national conversation on rare diseases. The framework aims to address shared challenges across all rare diseases, which while individually rare are collectively common, with 1 in 17 people affected over their lifetimes.

The 4 priorities of the framework are:

• helping patients get a final diagnosis faster
• increased awareness of rare diseases among healthcare professionals
• better co-ordination of care
• improved access to specialist care, treatment and drugs

Last year, the 10 Year Health Plan was published following a national conversation to make the NHS work better for people. We know that significant unmet need remains for people living with rare diseases, and this document sets out how delivery of the 10 Year Health Plan will address challenges for people living with rare diseases.

While these are long-term aims, we also detail progress made over the last year across our delivery partners in NHS England, National Institute for Health and Care Excellence (NICE), Medicines and Healthcare products Regulatory Agency’s (MHRA), Genomics England and research funders, as well as look forwards over the next year.

This is the fifth publication of the England Rare Diseases Action Plan, which sets out progress made. We have worked closely with our patient advisory group (PAG), convened by Genetic Alliance UK, to inform the content. This year’s document sets out updates on the 4 priorities of the framework and then focuses on 2 underpinning themes identified by the PAG:

• health equity
• digital, data and technology

These 2 themes also run through the 10 Year Health Plan and Life Sciences Sector Plan, and we set out the overlaps between rare disease policy and these wider strategies.

Progress against all actions across the lifetime of the framework is set out in annex A, which is published alongside this report. In addition, we introduce one new and important action - action 40. In this new action, following previous work to review the evidence, we recognise rare disease as a health inequality and commit to plans to address this.

Highlights of progress made include:

• MHRA’s commitments to major reform in regulation of rare therapies
• NICE’s publication of a new quality standard for rare diseases
• the development of a new NHS framework for individualised genetic therapies (designed for a specific patient) and the treatment of the first patient with an individualised therapy in the NHS
• new funding for 2 pilot centres for people with undiagnosed rare conditions
• the re-procurement of the NHS Genomic Medicine Service (GMS) in England and a future focus on reducing the ‘diagnostic odyssey’ (the often-long period of time it can take for a patient to receive a diagnosis) for patients with rare disease, providing a more comprehensive testing offer and looking for patients with inherited and rare diseases in the community

All 4 nations have agreed to extend the UK Rare Diseases Framework by one year, to January 2027. Over this time, in England, we will engage with the rare disease community to identify remaining priorities and challenges to inform the next steps. The views of people living with rare diseases and their families remains at the centre of our approach.

Introduction

People living with rare diseases face challenges in accessing healthcare compared to more common diseases. The UK Rare Diseases Framework, agreed across all 4 nations in 2021, set out to improve the lives of people living with rare diseases. It identified 4 priorities for change, based on the 2019 national conversation on rare diseases. These are: 

• helping patients get a final diagnosis faster
• increasing awareness of rare diseases among healthcare professionals
• better co-ordination of care
• improving access to specialist care, treatment and drugs

These priorities have remained at the core of the England rare diseases action plans. They are supported by the following underpinning themes:

• inclusion of patient voice
• national and international collaboration
• pioneering research
• digital, data and technology
• wider policy alignment
• health equity

The framework is delivered through action plans by each of the 4 nations, and we have published an England Rare Diseases Action Plan each year during the lifetime of the framework. 

Over the last 5 years, significant progress has been made on the priorities of the framework in England.

The NHS GMS now delivers genomic testing for over 7,000 rare diseases. The NHS has launched the pioneering Generation Study, piloting the use of whole genome sequencing in newborn babies to find treatable rare diseases as early as possible. GeNotes, an innovative digital educational resource for healthcare professionals designed and delivered by the NHS England Genomics Education Programme (GEP), now includes 12 specialties, with almost 600 resources covering more than 150 rare diseases. Co-ordinated care is at the heart of commissioning services in the NHS for rare diseases, and 28 rare disease collaborative networks (RDCNs) are also supporting treatment pathway development, shared learning and consistency in care across England. Lastly, more and more people are being treated with gene therapies, which regulators are primed and ready to help get to patients.

The 10 Year Health Plan was published in July 2025, followed by the Life Sciences Sector Plan. The Change NHS national conversation that informed the 10 Year Health Plan received over 270,000 contributions for how to make the NHS work better for people. This included strong representation from the rare disease community, whose voice is clear in the underpinning evidence behind the 10 Year Health Plan. There are 3 strategic shifts of:

• moving more care from hospitals to communities
• moving from analogue to digital
• moving from sickness to prevention

These will lead to transformational change across the system for the benefit of everyone including people living with rare diseases. However, there are nuances in how they need to be delivered for people with rare diseases and our England action plans focus on how to achieve this.  

This year, we have taken a different approach to the England Rare Diseases Action Plan. Over the lifetime of the framework we have introduced 39 actions and this year we focus on reporting on progress against those that remain live and extending them with new milestones, rather than introducing further actions.

We introduce just one new, important action, where we recognise rare disease as a health inequality and commit to developing an approach to address this - as action 40. More details are included in the ‘Health equity’ section of this action plan.

In the action plan we describe progress made against the 4 priorities of the framework, rather than providing a detailed action by action update. We also focus on the following 2 underpinning themes following feedback from our PAG:

• health equity
• digital, data and technology

Annex A, which is published alongside this report, sets out progress against all actions in the action plan.

The voices of the rare disease community remain at the heart of the action plan and will inform policy decisions to build further momentum across the health and care system to improve the lives of people with rare disease. We know that more needs to be done, and unmet need remains. This is why we are extending the framework for an additional year to 2027, and we will work across the 4 nations to engage with the rare disease community to listen to views about remaining challenges and future priorities. 

Updates on the framework’s 4 priorities  

Priority 1: helping patients get a final diagnosis faster

Some of the biggest leaps forwards in the last 5 years have been on addressing the diagnostic odyssey for people with rare diseases through advances in genomics. Further progress will be made across the next decade with commitments on genomics made in the 10 Year Health Plan.

Genomics, the study of people’s DNA, is informing treatment and ongoing management decisions. In 2025, the NHS GMS carried out over 340,000 genomic tests for rare disease, including over 40,000 whole genome equivalents as part of the routine whole genome sequencing service. Around 40% of whole genome sequencing carried out as part of the NHS Rapid Whole Genome Sequencing Service for acutely unwell children with a likely monogenic disorder yielded a diagnosis. Further information on the NHS GMS is included in the digital, data and technology section.

Clinics for undiagnosed rare diseases

Building on the work of NHS England’s highly specialised commissioning and the NHS’s genomic network of excellence for rare and inherited disease, this year we are pleased to be able to progress with opening 2 pilot centres for both children and adults with undiagnosed rare diseases. 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 (action 5).

These centres will be integrated within the NHS genomics network of excellence. They will explore the use of:

• advanced genomic technologies
• novel analytical strategies
• multiomics, the joint study of genes, proteins and RNA
• functional genomics

This work will focus on applying these approaches within clinical diagnostic pathways for undiagnosed patients and families.

It is expected that the 2 pilot centres (one in the north and one in the south of England) will be operational by autumn 2026. They will be used to expand the development of services for people with undiagnosed rare conditions. The learning from these pilot centres will be used to expand to further sites and integrate this new clinical pathway for undiagnosed rare conditions into the NHS GMS and its patient facing NHS clinical genetics services. 

Case study: thrombotic thrombocytopenic purpura

Across its services, NHS England’s highly specialised services (HSSs) are making improvements to the speed of diagnosis.

Diagnosis goes beyond genomic testing. Improving pathways and systems for recognising rare diseases is particularly important where diseases do not have an identified genetic origin. 

Thrombotic thrombocytopenic purpura (TTP) is a rare, acute and life-threatening disease that can affect people of any age and requires immediate treatment to prevent serious organ damage or death. Patients commonly present to emergency departments or acute stroke services with non-specific symptoms. Delayed recognition has historically contributed to significant regional variation in outcomes across England.

To address this, in 2022 TTP was designated as the first acute disease to be treated through the NHS England HSS model. Care is now provided through 7 regional networks (by 9 centres), delivering both acute and long-term management. All core therapies for TTP are now nationally commissioned, with 24/7 access to specialist diagnostics, clinical advice and treatment, supported by formal transfer and referral pathways.

A central focus of the service has been improving early identification of TTP in frontline settings such as emergency departments, acute medicine and stroke units. To enable this, regional centres have led co-ordinated outreach and education programmes with emergency departments, pathology services and stroke teams. These programmes promote rapid blood testing, early specialist discussion and clear escalation pathways. This approach has improved timely diagnosis and reduced delays to life-saving treatment.

Since commissioning, the service has reduced variation in care and outcomes, improved transfer times and strengthened national data collection through the UK TTP registry. The service has also established regular regional and national forums to share best practice. 

The national TTP service demonstrates how co-ordinated commissioning, specialist networks and targeted education in emergency and primary care settings can transform outcomes for rare, time-critical diseases.

Generation Study

The Generation Study is underway as an NHS-embedded research study. It aims to sequence the genomes of 100,000 newborn babies to test for over 200 rare diseases where outcomes for babies could be improved if they are diagnosed and treated early (action 2). As of 13 January 2026, the study has recruited more than 36,056 participants from over 72 hospitals across England. Sites are gaining momentum as they increase recruitment and a number of initiatives are underway to enable equitable access to the study, particularly for individuals from communities that have been less well-represented in research. Results are being returned to participants, including where a disease is suspected. These babies and families are then followed up in the NHS for confirmatory testing and care.

As Genomics England reported, one baby was diagnosed with a rare form of hereditary eye cancer and has received early treatment, giving the best chance to minimise the impact on his vision. Over 99% of participants will not be suspected as having one of the rare diseases being tested for. However, with parental consent, their genomic and health data is stored in the National Genomic Research Library (NGRL) to enable approved researchers to conduct research to improve how we diagnose and treat diseases in the future and support broader research to advance genomic healthcare. The 10 Year Health Plan announced the government’s ambition to implement universal genomic testing over the next decade. Delivering against this ambition will be subject to evidence gathered through the Generation Study. 

Screening for rare diseases

Decision making for evaluating new newborn screening programmes continues to progress and remains a priority for many of our stakeholders. The UK National Screening Committee (UK NSC) held a 3-month consultation on a recommendation to continue the in-service evaluation (ISE) of newborn screening for severe combined immunodeficiency in NHS services while the ISE of newborn screening for spinal muscular atrophy takes place. UK NSC will consider the draft recommendation and consultation responses in due course. In August 2025, UK NSC published 4 documents relating to its review of evidence on newborn screening for spinal muscular atrophy.

The NHS newborn blood spot (NBS) screening programme screens for 10 diseases. The development of novel disease-modifying treatments, including gene therapies, is an important driver behind Genetic Alliance UK’s 2025 policy report to expand newborn screening, especially for disorders where treatment needs to be started in the pre-symptomatic phase.

UK NSC is working with experts and partner organisations to look at how to make it easier to develop the evidence needed to make robust recommendations on the addition of more rare diseases to the NBS screening programme. 

Generating and evaluating evidence for individual rare diseases is difficult due to the cost and complexity of setting up large, long-term research studies to answer important questions. The UK is well set up to answer these questions through a track record in innovation and data expertise.

The screening tests currently used in the NBS screening programme are not genetic tests. They are based on disease-relevant biomarkers, for example specific metabolites for inherited metabolic disorders. Confirmatory testing includes assessment of the disease-specific genes, however ‘genetic-test-first’ approaches to NBS screening are also being evaluated. With the launch of the Generation Study in England, there is a need to evaluate how genomic and biomarker and/or metabolite-based methodologies are best combined and integrated in clinically effective newborn screening programmes.

UK NSC is proposing a new approach to evaluate and generate evidence for the addition of multiple rare diseases to the NBS programme at the same time. This project, EquipoISE, is a proposed rolling, multi-condition ISE. This would involve testing the addition of several diseases to NHS newborn screening in real-world service settings, to understand how it works in practice and provide evidence for future screening policy decisions.

The EquipoISE study is being developed with partners, so the exact process and infrastructure are not settled yet. Capacity, funding and methodology will be constraints.

Further information and updates will be available through the UK NSC blog.

In England, we have commissioned research on how best to measure the diagnostic odyssey (action 17). The research project (led by Consilium Scientific and Realise Advocacy), is identifying disease characteristics that impact time to diagnosis. By mapping the most common rare diseases and analysing core NHS data sets, it will inform the refinement of indicator diseases and the future development of time-to-diagnosis models. The project also completed a review of published evidence on diagnostic experiences in rare diseases. They are creating a visual mapping tool to illustrate real-world diagnostic journeys, helping to identify systemic delays, bottlenecks and variations in experience. Patient and public involvement and engagement (PPIE) has been central to both strands.

Across all work completed so far, early findings point to long diagnostic journeys, challenges with co-ordination, limited emotional support and clear inequalities. These issues are not new, but the research project is building a more detailed picture of how they affect different groups and how they relate to the actions set out in the UK Rare Diseases Framework. Work over the next year will focus on:

• refining a realistic and manageable set of measures
• expanding the evidence base
• bringing together findings from the different workstreams

Developing this evidence base will help to identify interventions that can be put in place to make diagnosis faster.

Priority 2: increasing awareness of rare diseases among healthcare professionals

People living with rare diseases often interact with many parts of the health system, such as:

• primary care and GPs
• secondary care like emergency departments
• highly specialist care

Raising awareness of rare diseases among healthcare professionals to improve join up of services and access to quality care is vital. In this section we update on progress made across the workforce.

The 10 Year Workforce Plan is in development and will recognise and incorporate the specific needs of genomics and rare diseases. There are around 150 specialist services in England supporting people with a range of rare and complex diseases. These are concentrated in a small number of expert centres and require highly advanced roles and skills. The principal workforce challenges relating to rare diseases are:

• structural fragility of ultra-specialist teams
• workforce pipeline and succession planning, including in and for other related (and multidisciplinary) teams
• the need for standardised critical healthcare roles
• limited data and limited visibility, including to local leadership

In response to these challenges and following publication of the 10 Year Workforce Plan, during 2026 and 2027 we will work to refine the baseline for priority professions and identify skills and supply gaps. We will also work with specialised commissioning and genomics partners to set out practical options across education and training, for upskilling and retention. This work will inform implementation planning and future updates following publication of the 10 Year Workforce Plan in spring 2026.

We recognise the distinct requirements of genomics and rare diseases, where services are delivered through a small number of expert centres requiring highly specialised roles and skills. This work would inform implementation planning and future updates to the plan.

NHS England GEP has continued to expand and strengthen genomics and rare disease education across the NHS, with a focus on practical, workforce-focused impact. A major achievement has been the growth of GeNotes, a digital resource providing concise, clinically relevant information to support patient management. Since launching in 2022, GeNotes has expanded to 12 specialties, nearly 600 resources and more than 150 rare diseases. Usage has increased more than tenfold in the past year up to 3,700 visitors per month - around half of these are international users. To better support busy clinicians, GeNotes has been embedded into primary care clinical decision-support templates through Ardens, a clinical support tool for GP practices. This allows GeNotes to reach the majority of GP practices, while work continues on AI-enabled access and future integration with the National Genomic Test Directory (NGTD).

NHS England GEP has also broadened its remit to include non-genetic rare diseases. It has strengthened its knowledge hub through new specialties, psycho-social resources, visual communication aids and collaborative projects, and it has partnered with Medics For Rare Diseases and Genomics England. Patient and public voices remain central, with the patient advisors for genomic education (PAGE) group informing strategy, resource development and education delivery across NHS England GEP and the Genomics Training Academy (GTAC) workstream.

Alongside this, NHS England GEP has delivered profession-specific strategies to increase genomics and rare disease awareness in nursing and midwifery, pharmacy and primary care, and new national frameworks, webinars and guidance (action 19). The programme has also advanced genomics communication skills training and continued to grow GTAC. GTAC now supports over 2,000 specialist learners through a centralised digital education model, with enhanced evaluation planned for 2026 and 2027.

As there are over 7,000 rare diseases, the NHS website is not always the best place to provide information on all diseases which need specialist input. We note the excellent work of patient organisations, which provide quality information on rare diseases. We have continued to explore how the Patient Information Forum’s ‘PIF TICK’ quality assurance scheme can support patient support groups to produce information. This year PIF TICK has supported us by running a survey to understand the barriers faced by rare disease organisations in using PIF TICK. We will use all our findings to develop solutions to these barriers.

Case study: prevention, early diagnosis and community-based care 

NHS England GEP has commissioned a scoping exercise to determine the genomics-related education and training requirements of the new neighbourhood health teams. This work will map the current primary care genomics landscape, identify existing resources and develop a roadmap to support the establishment of neighbourhood teams. It will also support the implementation of a new population genomic healthcare service. NHS England GEP will work with primary care, community and neighbourhood teams, and the pharmacy workforce to support targeted genomic screening. This will align with the 10 Year Health Plan’s focus on prevention and enable the safe and equitable rollout of pharmacogenomic testing and personalised medicines optimisation across hospital and community pharmacies.

Priority 3: better co-ordination of care

A need for major improvements to the co-ordination of care across NHS settings is one of the major challenges we hear most about from the rare disease community. Poorly co-ordinated care leads to higher logistical and financial burdens on patients and their families. It means care plans may not be in place or followed, leading to gaps in care and lost opportunities for information sharing. It also leads to inefficiency within the NHS and drives up costs. The 10 Year Health Plan aims to improve care co-ordination for all, including people living with rare diseases, by setting up neighbourhood health centres with co-located services, as well as the launch of the single patient record as mentioned in the ‘Digital, data and technology’ section below. 

The 10 Year Health Plan also aims to ensure support for children and young people as they navigate the NHS, ensuring they feel comfortable and confident in managing their own health and care from 16 years of age, where appropriate. This will include supporting young people as they move from child to adolescent and adult services, making sure that care is developmentally appropriate throughout.

NHS England’s Children and Young People’s Transformation Programme, along with important stakeholders, is developing guidance to aid the design of transition pathways that improve health outcomes for all young people. The guidance outlines major principles and examples of a model of care aimed at those aged 0 to 25, including clearer accountability and improved services for those aged 16 to 17. It aims to guide integrated care systems and healthcare providers on their roles and responsibilities for caring for children and young people going through the healthcare transition process. This guide would be applicable to all healthcare conditions and has been developed with the support of young people with long-term conditions as well. This follows the work NICE completed in 2024, revising the paediatric to adult transition quality standard, following detailed engagement with people living with rare diseases. 

Further progress specific to co-ordination of care for people living with rare conditions has been made during this year. In a major step forward to increase the standard of care for people living with rare diseases, NICE has published a quality standard for rare diseases. This follows a consultation in January 2026. The recommendations are generic and aim to improve quality for all people living with rare diseases.

In 2025, NICE also reviewed 2 guidelines on Duchenne muscular dystrophy (DMD) developed by DMD Care UK. These reviews aim to support better care and outcomes for people with DMD and assist health and care professionals in making informed decisions. See the full NICE reviews:

• DMD Care UK’s guideline on cardiac care of children with dystrophinopathy and females carrying DMD-gene variations: NICE review (NR1)
• DMD Care UK’s guideline on respiratory care: NICE review (NR2)

NICE guidelines aim to improve clinical care across the NHS, and an example of how these interact is in work on neurological disorders this year. In October 2025, NICE published a guideline on rehabilitation for chronic neurological disorders including acquired brain injury (NG252). The guideline covers several rare diseases such as:

• progressive supranuclear palsy
• Friedreich’s ataxia
• Huntington’s disease
• Batten disease
• mucopolysaccharidosis
• other genetic disorders

NHS England has also updated the national service specifications for neurology. The revised specification was published in August 2025 and now includes guidance on both specialised and core neurology services.

Last year, NHS England introduced a new action (action 38) to the action plan to put in place a structural methodology that incentivises providers to run clinics for multi-system disorders. Scoping discussions are underway to inform next steps, through engagement with existing clinics to learn from their experiences. Such clinics aim to improve the quality of care through the co-ordination of appointments for multi-system conditions around the patient. This reduces the number of hospital visits patients need to make and strengthens multidisciplinary management plans.

The NHS England Rare Diseases Advisory Group (RDAG) has approved 3 new rare RDCNs over the last 12 months. RDCNs, of which there are now 28, are made up of groups of expert providers who have an interest in developing understanding of a particular rare disease. They are committed to working together to progress research, increase knowledge and improve patient experience. NHS England commissioning teams support the RDCNs, but each network sets their own priorities and objectives. This year, NHS England, with advice from the RDAG, is undertaking a review of RDCNs to understand strengths of the model and form a view on future approach including any opportunities to work differently. The review is being informed by engagement with RDCNs, clinicians, trust executives and patient representatives.

We know there remains unmet need for co-ordination of care, particularly for rare diseases which do not have a specialised service. As we develop policy options over the next year of the framework, we will engage with the rare disease community. This will ensure the specific needs of people living with rare diseases are reflected in the policy and implementation of the 10 Year Health Plan. As part of this, we will take lessons learned from the research we have commissioned to strengthen our understanding of how to improve care co-ordination in line with the needs of patients with rare diseases. We will do this in a way that is as cost-effective as possible for the NHS.

Case study: modern service frameworks

Modern service frameworks (MSFs) are a major route through which the 10 Year Health Plan envisions improving avoidable mortality and morbidity through supporting consistent, high quality, high value and equitable care across major clinical pathways. MSFs will be targeted on areas where there is potential for rapid and significant improvements in quality of care and productivity. MSFs will be overseen by the revamped National Quality Board (NQB).

MSFs will each have the following 5 major components:

• an aspirational, long-term outcome goal for that clinical area
• identification of the best evidenced interventions that we anticipate supporting progress towards that goal, with a focus on those that best support value and equity
• a detailed account on how we intend to support consistent uptake of those interventions by clinicians and providers, with a focus on reducing unwarranted variation
• identification of high potential innovation themes where we anticipate significant progress being possible in the next 10 years
• a detailed account of how we plan to work with others to develop, adopt and spread innovation in those themes

Following the initial wave of MSFs announced in the 10 Year Health Plan, the NQB will recommend to ministers which conditions should be prioritised for new MSFs as part of its work programme. The NQB will then oversee the development of approved MSFs. We anticipate new MSFs taking 6 to 9 months to develop in what will be a resource-intensive approach. MSFs will not be the standard approach to improvement for all condition areas, and there must be a clear rationale for why an MSF is more appropriate than alternative approaches.

Case study: DNA Repair Disorders Service and carousel clinics

The highly specialised DNA Repair Disorders Service is based at Guy’s and St Thomas’ NHS Foundation Trust and provides care to patients on a national level. Care is delivered through a combination of face-to-face clinics, virtual appointments for patients unable to travel and home visits by the specialist nursing team.

The service for Cockayne syndrome and trichothiodystrophy, part of the DNA Repair Disorders Service, sees children, teens and adults in a dedicated rare disease centre at Guy’s and St Thomas’ NHS Foundation Trust. It is also co-located with a wide range of interdependent services patients may need. The patient support group, run by the Amy and Friends charity, is pivotal in the delivery of this service. The group provides support to patients and their families, both attending clinic and outside of appointments.

Carousel clinics provide co-ordinated, multidisciplinary care, giving patients the opportunity to see up to 10 different specialists with expertise in their condition or conditions during a single hospital visit. Following appointments throughout the day, the multidisciplinary team come together to discuss and agree a co-ordinated package of care for each patient. This ensures alignment across specialties.

These clinics benefit the patient and the NHS as a whole, providing cost effective and efficient treatment plans that are shared with local teams, avoiding duplication. One example of success is arranging for different specialists to perform surgeries at the same time, so the patient only needs one general anaesthetic. A major aim of the service is to work with local care providers and a nurse-led national outreach service, providing a holistic model of care. The nursing team act as a conduit, ensuring timely flow of information, attendance at appropriate patient related meetings and ultimately seamless shared care. 

Feedback received both directly and through the support group shows that this way of working is invaluable to patients, their families and local healthcare teams. NHS England is capturing learning from the clinic to inform its work on action 38.

Co-ordination of care

The National Institute for Health and Care Research (NIHR) funded CONCORD2 study led by the University of Cambridge is examining which approaches to care co-ordination work best for people with a rare condition, their parents, carers and health professionals.

A study steering group and a PPIE group have been established and regular meetings have taken place between the 2 groups. The Cambridge team undertook a literature review and are in the process of writing an academic paper to be submitted in March 2026. The researchers have met with teams from 6 rare disease clinics from 3 trusts across England to get qualitative insights. They will be publishing a national survey on the UK Rare Diseases Forum online platform, aimed at people living with rare diseases and their carers, to gather their views and experiences in February 2026. This online platform is open to anyone who is interested in rare disease policy and is an opportunity for discussion and engagement between our stakeholders and delivery partners. Email gset@dhsc.gov.uk for details on how to register.

Delays are anticipated due to securing approvals for study sites, with the overall study now expected to report in July 2026.

Priority 4: improved access to specialist care, treatment and drugs

The scale of unmet need for approved and effective treatments for rare diseases is significant, with specific therapies available for only 5% of rare diseases. As set out in the Life Sciences Sector Plan, life sciences in the UK have benefits for both patients and the economy with the potential to save lives, increase investment and encourage innovation. The government is working on broad reforms to the regulatory framework to make it easier to develop and deliver new therapies in the UK. This includes therapies for rare diseases. 

Specific challenges exist along the journey in turning research into treatment for rare diseases, and the regulatory pathway is rising to meet these. Where there are small numbers of people with a given disease, recruitment for clinical trials can be difficult, particularly for studies looking at specific genetic variants. Building an evidence base for safety and efficacy is challenging with small patient numbers and lifelong diseases. The cost of research and manufacture can be prohibitively expensive for cutting-edge therapies where ‘economies of scale’ are not possible as for common diseases. Addressing these challenges and the health inequity they cause will need a system-wide approach and partners across the system are working to make improvements which will lead to accelerated development of, and access to, rare disease therapies. 

Activity is happening across the regulatory system, as set out in the 10 Year Health Plan, the Life Sciences Sector Plan and beyond.

MHRA position paper

On 2 November 2025, MHRA published a significant position paper outlining its vision for enabling innovation in rare disease therapies. This includes exploring legislative changes to make it quicker and easier to test, manufacture and approve these therapies in the UK. The position paper outlines the current approach by UK regulators and partners to design a forward-looking framework that meets the needs of patients with rare diseases, while ensuring robust evidence generation, system sustainability and international convergence. A draft of the framework is anticipated to be available by spring 2026, followed by external review in the first half of 2026. Potential legislative or further development steps may also occur during this period. A public consultation will be conducted in 2026 to ensure all views are considered, maintaining patient interests and safety while supporting innovation of critical therapies.

Clinical trial reforms

The UK government has a policy to streamline and reform the set-up and delivery of clinical trials to maintain the UK’s global competitiveness in the life sciences sector. This directly benefits patients through expanded access to cutting-edge treatments and therapies. The policy underpins wider system reform through the UK Clinical Research Delivery programme. The Prime Minister announced in April 2025 that the UK government is committed to reducing the time it takes to set up a clinical trial from over 250 days to 150 days by March 2026. This commitment is a headline action of the Life Sciences Sector Plan and is reinforced in the 10 Year Health Plan. 

The 150-day target by March 2026 is designed to strengthen the UK’s clinical research environment. Reporting against the target excludes studies where identification and recruitment of the first participant is expected to take longer, including rare disease studies. The 150-day target for set-up is a ceiling, not the ambition, and trials, where possible, should be set up more rapidly. The exemption for rare diseases is to ensure vital research addressing smaller or harder to reach populations is supported and not penalised due to the nature of diseases being investigated. It should not serve as a disincentive for rare disease studies.

We are committed to a positive environment for rare disease studies and the scientific, clinical and patient value they bring. The government’s wider policy intent ensures that the benefits of cutting bureaucracy, removing duplication and driving efficiencies are realised across all study types, including rare diseases. As we improve study set-up timelines across the system, we recognise that complex, high-impact trials, including those in rare diseases, must remain a strategic priority. 

The new clinical trial regulation, the Medicines for Human Use (Clinical Trials) (Amendment) Regulations 2025, was laid before Parliament on 12 December 2024, and is now signed into law (action 38). A 12-month phased rollout began on 11 April 2025, with full implementation from 10 April 2026. For rare disease research, where patient populations are small and trial designs often complex, the flexibility and proportionality of this framework will enable more efficient set-up and conduct of clinical trials.

NICE and MHRA co-ordination

The Life Sciences Sector Plan committed to streamlining market entry, through enhanced co-ordination between MHRA and NICE. By April 2026, MHRA and NICE will align a pathway for parallel decision making over licencing and value, including a new fully integrated joint scientific advice service. The pathway brings together MHRA’s licensing process and NICE’s value assessment process, enabling decisions to be published simultaneously rather than consecutively. This will reduce the 90-day gap between marketing authorisation and NICE guidance decisions. This creates faster patient access, support for the NHS and a more efficient route for industry, with the aim to bring new medicines to patients in the UK 3 to 6 months earlier.

NICE has set up a technical and project team in its medicines evaluation directorate dedicated to rare disease topics being evaluated in the technology appraisal and highly specialised technology programmes. This team will maintain and develop specialist knowledge in rare disease evaluation, as well as provide consistent points of contact for external engagement. 

In December 2025, the government announced that it will increase the thresholds NICE uses in evaluations of new medicines to decide which are cost-effective for use in the NHS. NICE will apply new thresholds of £25,000 to £35,000 per quality adjusted life year as soon as NICE has the power to do so, following a change in regulations. This change, from April 2026, is designed to improve the operating environment for pharmaceutical companies in the UK in order to maximise the government’s commitment to unlock innovation and support the sector. NICE is working to introduce these changes fairly and swiftly to provide clarity for patients and industry. In addition to considering cost effectiveness, NICE’s independent committees hear from people affected and their carers. They also hear from clinical experts and examine real-world evidence of how the treatment performs outside of clinical trials, before reaching final decisions on the use of medicines.

Access to medicines pathways

In July 2025, there was a meeting between the Department of Health and Social Care (DHSC), MHRA, NICE and NHS England, as well as industry and patient organisations. The discussion focused on action 25, the effectiveness of early access pathways, including:

• Early Access to Medicines Scheme (EAMS)
• Innovative Licensing and Access Pathway (ILAP)
• Innovative Medicines Fund (IMF)

Actions from the meeting included that MHRA will share findings on ongoing improvements to the EAMS pathway with the group. NICE will follow up with the Association of the British Pharmaceutical Industry and the BioIndustry Association on tracking rare disease therapy submissions to NICE routing pathways and identifying success factors. The group will also consider how to share information on early access schemes in an accessible way. A summary of the discussion held in this meeting will be uploaded to the UK Rare Diseases Forum online platform.

The group has agreed to meet again in 2026. While challenges remain, progress has also been made - for example, the refreshed ILAP aims to accelerate the development of and access to innovative treatments, including for rare diseases. The 3 products selected in the first application round are for the treatment of rare diseases. MHRA has also taken steps to address challenges in using EAMS and has updated guidance on collecting real-world data and managing access during both the post-market authorisation and winding-down periods. These updates aim to provide clarity and flexibility for companies considering EAMS.

NHS England and NICE continue to work in partnership to identify suitable products for the IMF and proactively engage with companies accordingly.

Individualised therapies

NHS England has progressed work to develop an operational framework for individualised therapies (action 39). The output will be a national framework for how therapies for rare diseases, whether created for an individual or single numbers of patients, will be delivered in the NHS. The aim is to finalise the plan for the framework in spring 2026. These therapies offer enormous potential to address unmet need for people living with some rare diseases but will require system-wide changes. 

To help address regulatory challenges, the MHRA Highly Personalised Medicines Expert Group has expanded its remit to cover rare diseases and in October 2025 published the results of their consultation on draft guidance on individualised cancer immunotherapies - with principles that may also apply to rare diseases.

Individualised therapies are also covered by the MHRA framework for rare diseases. In December 2025, the NICE Health Technology Assessment Innovation Lab (HTA Lab) published a report on enabling individualised therapies, making recommendations for pilots to test approaches for highly uncertain platform technologies. Research continues through the UK Platform for Nucleic Acid Therapies and the Medical Research Council (MRC) Core in Therapeutic Genomics. The Rare Therapies Launch Pad continues to explore system-wide solutions for these innovative therapies.

On 16 December 2025, DHSC worked with Genomics England to host an all-day workshop on individualised therapies with main stakeholders across the system to report on progress and determine next steps. A summary of the meeting will be uploaded to the UK Rare Diseases Forum online platform. During the next year:

• DHSC will explore taking forward the recommendations from the workshop
• MHRA will clarify its regulatory position on individualised therapies
• NICE will explore suitable topics for the pilots recommended in the HTA Lab report
• NHS England will also commence development of the operational framework, initiating testing with external stakeholders, and refining the framework based on feedback by the end of 2027

These activities - to create a regulatory environment ready to make timely decisions on rare disease therapies - reflect that we are moving into an age where what is scientifically possible is no longer a barrier for new therapies for rare disease. Over the past year, there have been significant headlines about new therapies for previously untreatable rare diseases, such as Huntington’s disease. The UK Rare Diseases Framework, along with the 10 Year Health Plan and the Life Sciences Sector Plan, are aligned on making sure these advances are felt by patients in the UK.

Case study: Niemann-Pick disease type C

Earlier this year, a teenager from the south of England with Niemann-Pick disease type C was the first person to receive an antisense oligonucleotide therapy under a ‘master protocol’ approved by MHRA. This study design would test the safety and efficacy of a particular class of drugs as a group, rather than assessing a single new medicine that is developed for each individual patient every time. This class of drugs is tested in ultra-rare diseases because it is not possible to set up a standard clinical trial in such a small number of patients. This vastly speeds up access to treatment for conditions that have limited commercial market and a small number of patients benefiting from the individual treatments.

Niemann-Pick disease type C is a rare, neurodegenerative lysosomal storage disorder that leads to progressive neurological decline and dementia-like symptoms. The patient is affected by epilepsy, cataplexy, ataxia and significant cognitive, memory and learning difficulties. The condition is progressive in nature, and without effective treatment their symptoms are expected to continue to worsen, leading to a significant decline in function and quality of life. The disease is usually life limiting.

Professor Paul Gissen, Lead of Gene and Stem Cell Therapies Theme at NIHR’s Great Ormond Street Hospital (GOSH) Biomedical Research Centre - and the patient’s consultant - said:

A major hurdle for new treatments for patients with rare diseases is that drug development is slow and costly. This speed and expense are prohibitive for treatments that are only suitable for a handful of patients because of the rarity of the disease. A master protocol allows us to capitalise on the ability to quickly tailor antisense oligonucleotide therapies for 1 or 2 patients, and build on the expertise and partnership we have between GOSH and University College London as well as industry partners.

An operational framework for treatments tailored for a small number of patients, so called ‘n = few’, would be transformational for the field and allow us to bring safe and effective treatments to those who desperately need them much quicker. We delivered our first therapy of this kind at GOSH recently under this study design. It could have huge potential for children with rare diseases here at GOSH and around the world. We want to build on our expertise as an early adopter and become an accredited hospital under this framework.

Updates on underpinning themes

Health equity

Addressing health inequity for people living with rare diseases remains an underpinning theme in the England rare diseases action plans and should be considered as fundamental to all 4 priorities throughout this action plan. We are committed to delivering a health and care system that works for all. In February 2025, we continued our collaboration with Breaking Down Barriers, a network of over 70 organisations working to improve the lives of families from diverse communities affected by genetic diseases. We held a workshop to gather experiences and produce a report to inform the Change NHS national conversation.

NHS England has published and shared a health inequalities toolkit for HSSs (action 35). The toolkit was finalised and published on the NHS Futures platform (only for NHS staff) and the UK Rare Diseases Forum online platform in June 2025. The associated online platform is open to anyone who is interested in rare disease policy and is an opportunity for discussion and engagement between our stakeholders and delivery partners. In November 2025, HSSs, working with partners, hosted a webinar to raise awareness of this toolkit. The webinar was attended by the HSS clinical teams and RCDNs.

Last year, we reported on research by the NIHR-funded Exeter Policy Research Programme Evidence Review Facility on health inequities experienced by the rare disease community regarding diagnosis and access to health and social care services (action 28). The Exeter review facility team’s scoping review identified inequalities common across the rare disease community, including delayed diagnosis, limited knowledge of rare diseases among health and social care professionals, and restricted service provision in both general and specialist care. It also highlighted drivers of inequality within the rare disease community.

This year, we have built on these findings. The Exeter team produced a toolkit mapping these inequities onto the patient pathway for rare diseases, providing detailed insight to help identify where interventions can reduce inequalities. Additionally, the NHS GMS has worked with the NHS Race and Health Observatory on a project to develop toolkits ensuring equitable access to genomic healthcare for all, regardless of ethnicity or gender identity.

Action 40: addressing health inequalities for rare diseases through Core20PLUS5

This evidence base, developed over the last 2 years, leads us to recognise that people with rare diseases experience inequalities in access to healthcare services and should be included under the NHS England Core20PLUS5 framework. Over the next year, we will develop an implementation plan for embedding rare diseases in the Core20PLUS5 framework with delivery of the plan over 3 years, from 2026 to 2028. In the year ahead, this will include sharing the findings of the work through NHS England’s Healthcare Inequalities Improvement Programme structures and building on learning from the sickle cell disease and thalassemia programme evaluation. See more about this new action and associated milestones in annex A, which is published alongside this report.

Digital, data and technology

Ensuring accurate, secure and prompt access to reliable rare disease data is essential for shaping and refining services, supporting research and facilitating participation in clinical trials and access to innovative treatments. The transition from analogue systems to digital solutions, as outlined in the 10 Year Health Plan, underscores the critical role of data. The ongoing focus on digital, data and technology remains central to England’s rare diseases action plans, reflecting the broader policy movement towards digital transformation within the NHS. The Life Sciences Sector Plan focuses on 3 pillars:

• enabling world class research and development
• making the UK an outstanding place in which to start, grow, scale and invest
• driving health innovation and NHS reform

The UK has a unique advantage of having a single-payer health service, enabling access to one of the largest population-level health data sets in the world.

Owing to the low numbers of people living with each rare disease it is particularly important that data is collected, collated, curated and shared - ideally at a national population level - to maximise our ability to understand these diseases. In this section, we set out some of the major announcements on using data and their relevance to improve systems for rare diseases.

NHS Genomic Medicine Service

The NHS GMS provides equitable access to genomic medicine across the NHS in England and provides standardised care across the population, including for over 7,000 rare diseases and 200 cancers. In 2025, over 90% of individuals undergoing testing in the NHS GMS consented for their genomic data to be uploaded into the NGRL held at Genomics England. 

Some of the biggest leaps forward in the last 5 years have been on addressing the diagnostic odyssey for people with rare diseases through advances in genomics. The 10 Year Health Plan included a commitment to eliminate the diagnostic odyssey experienced by some patients with rare diseases, reducing the time it takes to get a definitive diagnosis from 4 years to 3 months in some instances. Since 2021, there have been over 200 updates to the NGTD for rare disease, including over 35 in 2025. This has included the introduction of new clinical indications, ensuring the use of cutting-edge technologies and updating the eligibility criteria. This ensures that the right patients can access genomic testing to inform their diagnosis and treatment. Further updates to the NGTD are ongoing and planned for 2026.

The NHS GMS, working with Genomics England, has seen more than 4,500 new diagnoses since 2018, both returned to the NHS GMS and to patients through further and more detailed exploration of their whole genomes in the NGRL. While technological advances have unlocked new diagnoses faster than previously possible, we know there is still work to be done to reduce disparities and expand the diagnostic offer, including for non-genetic rare diseases.

This is why, in the re-procurement of the NHS GMS in 2025, the future focus in the 10-year contracts being put in place from April 2026 is on rare disease clinical functions. The aim is to lead the embedding of genomic technologies and testing into end-to-end clinical pathways.

An NHS genomic network of excellence in rare and inherited disease has worked with partners to accelerate delivery of the clinical and diagnostic ambitions in the rare disease action plan. This work benefits all NHS patients and families affected by rare genetic conditions and has included:

• developing recommendations for optimal care pathways
• driving improvements in diagnostic and clinical pathways
• sharing practice and policy
• providing support and education

From April 2026, this network of excellence will continue work to introduce pathways to more comprehensive testing including proteomics and metabolomics to improve diagnostic outcomes. Supporting the shift from analogue to digital under the 2025 action plan, the NHS genomics data and digital programme now includes 4 workstreams. Following successful evaluations with regional NHS GMS partners in 2025, the digitised NGTD is being introduced for clinical use nationally during 2026. This will help make it easier to search and find tests and will combine the eligibility criteria and the NGTD into one product, simplifying it for clinical use. This is especially important with a view to mainstreaming genomics and making it more accessible to patients.  

Electronic order management is being implemented in the North Thames NHS GMS. This will establish a blueprint for national implementation from 2026, to be rolled out first across the NHS GMS, followed by high-volume requesters of genomic tests, for example those providers who host an NHS clinical genetics service, but increasingly this will include more mainstream clinical specialties. This will help streamline diagnostic pathways, moving away from paper request forms and allowing greater clinical visibility of diagnostic services. Clinicians will be able to keep track of the progress of their test requests without emailing or phoning the laboratory. It will provide a mechanism for auditing how quickly the service responds, with date and time stamps recorded at each interaction. This provides the evidence needed to deliver service improvements and reduce turnaround times. 

The unified genomic record (UGR) is building on the infrastructure provided by order management to benefit other genomic data sharing pathways such as visibility of clinical records across multiple providers. It will provide a single national point of truth for genomically informed clinical records. This will ensure that genomics can inform treatment and prescribing decisions, for example, connecting family records where testing is indicated for inherited conditions. Importantly it will support researchers to identify small cohorts of patients for more detailed study including phenotypic characterisation. 

A new bioinformatics standardisation workstream is working on enabling cloud-based national collaboration, joining data sets and ensuring innovation and service improvements can easily propagate across the NHS GMS. This will allow genomic variants to be searched within approved data sets across the country, which enables the identification of other cases and collaboration on rare conditions and the identification of cohorts and the linkage to clinical trials - if patients consent. Initially those data sets that will be approved include genomic data currently held in individual GMS geographies and by Genomics England, thereby increasing visibility of the existence of rare variants. As the UGR and the wider health data research infrastructure evolve, the UGR has been designed to support linkage with multiple additional data sources, such as NHS England’s National Disease Registration Service (NDRS) and DigiTrials.

Health Data Research Service

On 7 April 2025, the Prime Minister announced that the government and Wellcome will invest up to £600 million to create a new Health Data Research Service (HDRS). This service will bring new treatments and cures to patients by safely enabling the use of patient data to supercharge research. This will attract investment, making the UK one of the best places in the world to conduct ground-breaking medical research.

HDRS will deliver a single point of access to health data for research purposes from multiple sources, including for rare disease research. This will save researchers time they would otherwise spend navigating complex systems, helping them access information more quickly and securely, and increasing transparency around data use. As HDRS is established, we will explore its utility for addressing the challenges associated with research into rare disease.

NHS data is already being used to power incredible research. The service will build on existing infrastructure such as NHS England’s NDRS and the NHS Research Secure Data Environment (SDE) network, which already enables safe and secure access to health and care data for research into rare diseases.

Secure access to high-quality, curated health data is central to advancing life-saving research, innovation and easing pressure on the NHS. DHSC and NHS England are committing to a ‘data access as default’ approach for secondary uses of health and social care data, delivered through SDEs. The Data for Research and Development Programme has underpinned this by enabling researchers to securely access NHS data within a national network of NHS research SDEs, ensuring data remains within the NHS. By working to bring together previously fragmented data sets, adopting common data standards and providing rapid, secure access through Health Data Research UK’s Health Data Research Gateway, the SDE network supports rare disease research. It also improves innovation and helps sustain the NHS.

The NHS England SDE provides national scale coverage of highly curated, high value data sets and work is ongoing to include rare diseases in this. These data sets, when accessed alongside regional SDEs that collectively cover all of England, provide access to granular, near real-time, multimodal data. It is bolstered by clinical and data science expertise that supports data curation and the translation of research into practice.

Case study: secure data environment

West Midlands Secure Data Environment has worked with the Centre for Rare Diseases at University Hospitals Birmingham to build a rare disease warehouse, which includes 25,000 unique rare disease records. The data held in the warehouse is accessible through the SDE for researchers who request access. The data is as diverse as possible in order to reduce health inequalities, with ethnicity, gender and age being monitored to ensure that the data set is representative.

This data is also being developed into an easy-to-use dashboard within the SDE.

Researchers can quickly see the number of patients in the data set with a specific disease and determine whether it can support their research project.

The dashboard will help researchers to filter by demographic, which is particularly important when aiming to research specific populations.

NHS England’s National Disease Registration Service

NHS England’s NDRS, through the National Congenital Condition and Rare Disease Registration Service (NCARDRS), plays a fundamental role in using national data to improve the identification and understanding of people living with rare diseases in England. It is one of the largest active rare disease registration services in Europe and supports delivery of several actions within the UK rare disease action plan for England.

While individual disease registries can play an important role in collecting very granular and disease-specific data, we encourage sharing of consented data with NHS England’s NDRS. This helps reduce fragmentation and data silos, ensures sustainability and maximises the utility of a national, population-level data resource.

Over the last year, NDRS has continued to improve the findability of people living with rare diseases. Dataflows from HSSs, RCDNs and other rare disease specialist providers - including screening and genomic laboratories - have been strengthened. This has broadened the coverage of rare diseases within the service.

A formal Rare Disease Data Set specification has been developed with input from main stakeholders. Early testing is underway and has received positive feedback from adopters. In addition, the National Inherited Cancer Predisposition Register has been successfully launched as part of NHS England’s NDRS. It provides a consistent, national infrastructure for identifying and understanding rare diseases that cause an inherited predisposition to cancer.

Collectively, these data sets strengthen England’s national rare disease evidence base. They improve the ability to identify people living with rare diseases across multiple care settings and support more robust national analyses and policy. NHS England’s NDRS is exploring how its data could be made more readily available through NHS England’s Data Access Request Service and/or SDEs. This is subject to resourcing and prioritisation across the multiple teams that would be required to support this.

This work aims to enable accredited researchers to securely access and analyse high-quality rare disease data, supporting the development of new diagnostics and treatments. NCARDRS could also play an important role in supporting the EquipoISE study (see priority 1) and the MHRA proposals (see priority 4) around revised regulatory pathways for rare diseases. It could also support the possible use of real-world, routinely collected data for evaluation and follow-up, subject to resourcing.

NCARDRS is exploring mechanisms for self-reporting for rare diseases. They are beginning with a discovery phase to establish the requirements for a self-reporting mechanism and potential routes to implementation, with recommendations on next steps due by April 2026. Options under consideration include digital solutions that are interoperable with NHS systems, such as the NHS App, and accessible to patients and clinicians. DHSC will also continue to explore whether the NHS App could be used in the short to medium term as a ‘patient passport’. This would provide clinicians with rapid information about the needs of people with rare diseases at the point of care while the single patient record is still under development.

Single patient record

The single patient record (SPR), a central tenet of the government’s 10 Year Health Plan, will give patients greater control through a unified, secure health record, ensuring co-ordinated and personalised care. The UGR will integrate genomic data with relevant clinical and diagnostic data and be linked to the SPR.

By linking data from across health and care services, patients and healthcare professionals will be able access an up-to-date, accurate record across care settings, meaning quicker, better and safer decisions can be made. Accessed through the NHS App, the SPR will begin to go live from 2028, starting with maternity care. The SPR will especially benefit rare disease patients by improving record transparency, reducing the need to repeat medical histories and making it easier to share care plans with healthcare teams.

Remaining underpinning themes

The following underpinning themes continue to inform our work:

• inclusion of patient voice
• national and international collaboration
• wider policy alignment
• pioneering research

In previous years we have also covered focus areas such as access to mental health support, support for people with undiagnosed conditions and non-genetic rare diseases, and transition from paediatric to adult care. These remain important, and over the next year we will continue to embed them into the health system for people living with rare diseases.

A flagship platform from Rare Disease Research UK, the Hub is funded by NIHR and MRC and supports researchers to work differently on rare disease research. It focuses on bringing stakeholders together from across the rare disease research ecosystem to address shared challenges in a joint approach and with the voice of people with lived experience at its heart. The 11 nodes continue to advance research across groups of understudied rare diseases aiming to maximise research impact. Nodes have made progress in areas like novel diagnostics, ethics and trial design, which have the potential to benefit a broad range of rare diseases, and learning can be applied to more common diseases.

Through its regulatory working group, the Rare Disease Research UK hub has fostered an effective partnership with the LifeArc Centre for the Acceleration of Rare Disease Trials and the Rare Therapies Launch Pad. A 2-day workshop held in November 2025 helped to bring together regulatory challenges facing researchers and feed this back to regulators. Several Rare Disease Research UK nodes have also established formal partnerships with NHS England’s NDRS to further expand the number of conditions covered at a population level within the national registry. The work of Rare Disease Research UK demonstrates the strengths of taking a shared challenges approach to rare disease research, preventing duplication and bringing benefits to the rare disease community through innovation. 

The UK continues to work with international initiatives such as Horizon Europe’s European Rare Diseases Research Alliance. There are 8 UK organisations currently participating in the alliance, and the UK International Mirror and Action Group for Rare Diseases (RD-IMAG) is working to bring in wider engagement between rare disease researchers in the UK with European and international initiatives. RD-IMAG continues to support thinking around steps which can be taken to optimise the UK’s working relationship with the European Reference Networks post EU exit. 

During this year we have reconvened the UK Rare Diseases Research Landscape research funders steering group to discuss the outputs of the James-Lind Alliance facilitated workshops held in 2024. These workshops helped us to understand the views of people with lived experience of rare diseases on research gaps and priorities. The research funders group will continue to meet this year to pull together a cross funder strategic approach to rare disease research for autumn 2026. 

Engagement with the rare disease community and people with lived experience has remained central to our approach to policy, delivery and prioritisation. We have continued to convene members of the UK Rare Diseases Forum online platform and thank members for their time and expertise. This year the forum has discussed topics including:

• rare disease patient passports
• the work of Medics For Rare Diseases in increasing awareness in healthcare professionals
• lessons learned from the first 5 years of the UK Rare Disease Framework

We would also like to thank the patient advisory group convened by Genetic Alliance UK in development of this year’s action plan. We also welcome the work of umbrella organisations like Genetic Alliance UK and Beacon in engaging with the community to consider the opportunities and challenges remaining, and how this applies to future policy on rare diseases.

Next steps  

Following the extension of the UK Rare Diseases Framework into 2027, across the coming year we will engage with the rare disease community to inform future policy options. While we do this, we will work to embed the needs of the rare disease community into the actions being taken under the 10 Year Health Plan and the Life Sciences Sector Plan. In addition, the findings of a portfolio level monitoring and evaluation exercise we have commissioned through NIHR will report later this year and inform our next steps.

Working across the 4 nations to share best practice has brought benefits to the framework and we are grateful to the UK Rare Diseases Forum online platform, as well as patient organisations like Genetic Alliance UK and Beacon, for their continued advocacy and engagement.