OPINION: England Rare Diseases Action Plan 2025 to enhance research and treatment

Rare Disease Day 2025 was marked on 28 February 2025 with the publication by UK government of the England Rare Diseases Action Plan 2025, a crucial step towards improving diagnosis, treatment, and research for rare diseases affecting millions of people. This plan builds on previous efforts under the UK Rare Diseases Framework and introduces new initiatives to enhance patient care, clinical research, and access to innovative treatments. 

Plan highlights 

The 2025 action plan continues the UK’s commitment to addressing rare diseases by focusing on three primary objectives: 

• Establishing new models for multi-system disorder clinics to improve patient care
• Enhancing the UK’s position as a leader in rare disease clinical research
• Preparing the NHS to deliver advanced, personalised therapies targeting rare genetic conditions. 

This is the final year of the current UK Rare Diseases Framework, and the government has reaffirmed its dedication to working with stakeholders to shape future policies for rare disease management and research. 

The NIHR BioResource

The BioResource comprises more than 300,000 recallable volunteers, with and without health conditions, who have consented to participate in research investigating the links between genes, the environment, health and disease. This includes 2,619 new rare disease patients and relatives across 55 different rare disease areas, recruited into the Rare Diseases BioResource in 2024, taking the total to more than 25,000 participants.

One of the most notable advancements supported by the BioResource is in blood-related rare conditions, including Sickle Cell Disorder (SCD) and Thalassaemia. These conditions require patients to undergo frequent blood transfusions in order to be healthy. The challenge, however, is that there is a lack of availability of suitable blood donor matches, which poses life-threatening risks to patients.  

The BioResource, in collaboration with NHS Blood and Transplant (NHSBT) and the STRIDES Trial, led a programme involving over 75,000 blood donors – many from minority ethnic backgrounds – to identify blood groups through standard serology and genetic testing. This paved the way for improved blood-matching techniques, significantly reducing the risk of transfusion reactions for individuals with sickle cell disorder and thalassaemia. 

Further advancements have been made with bloodTyper, a rapid genotype test for blood matching, developed by the international Blood Transfusion Genomics Consortium. This test, now available through the NHS England genotyping programme, enables better-matched transfusions, reducing complications and improving patient outcomes. 

Additionally, the BioResource has launched the Improving Black Health Outcomes (IBHO) programme, in collaboration with King’s College London and Genomics England, focusing on recruiting participants with Sickle Cell Disorder and Thalassaemia to expand research and improve healthcare solutions tailored to these conditions. 

Better care for sickle cell patients 

The 2025 action plan also includes initiatives to enhance emergency care for sickle cell patients experiencing vaso-occlusive crises (VOC), which cause extreme pain. Seven pilot sites for emergency department bypass systems have been set up across England to help patients receive pain relief and specialist care without long waits. Once fully operational, these sites are expected to benefit two in five individuals experiencing painful sickle cell crises. 

To further improve healthcare access, the government is working on digitising patient care plans, ensuring all patients have records that are easily accessible to healthcare providers, thereby streamlining care delivery and reducing emergency response times. 

Future directions 

As the UK moves beyond the current Rare Diseases Framework, the government is engaging with stakeholders, including patient advocacy groups, researchers, and international partners, to shape the next phase of policy and research efforts. The focus will be on expanding access to individualised therapies, improving health equity, and strengthening the national and international rare disease research ecosystem. 

Find out more about our Rare Diseases BioResource, including the conditions we are currently recruiting patients for and the studies our volunteers have supported over the past 16 years, by visiting the website.

If you are a researcher interested in finding out how the BioResource can facilitate your research by providing samples, data, or participant recall, please get in touch today. 

NIHR BioResource
[email protected]