Policy paper

England Rare Diseases Action Plan 2026: simplified version

Updated 4 March 2026

Applies to England

This is a simplified version of the England Rare Diseases Action Plan 2026.

This version aims to help people who feel they would benefit from clearer, simpler language to understand this document.

This is a long document. You can read all of it or choose to only read sections that are interesting to you. Because this is a long document, you can also ask for someone to help or support you with reading it.

Introduction

In 2021, the Department of Health and Social Care published the UK Rare Diseases Framework. This means that we made this document available for people to see and read. The UK Rare Diseases Framework set out how the UK will improve the lives of people living with rare conditions over 5 years from 2021 to 2026.

A condition is a problem with your body or mind that can make you feel unwell. A rare condition is a condition that affects one person or less out of every 2,000 people. Rare means something that doesn’t happen often.    

Imagine a room with 2,000 people in it. Only one person in this room will be affected by a rare condition. There are a lot of people in the UK, so around 3.5 million people have a rare condition.

The government runs the country and has responsibility for creating laws and making the National Health Service (the NHS) work. The Department of Health and Social Care is part of the government.

In England every year, we (the Department of Health and Social Care) write a report with the help of other organisations. The report explains what we have been doing to help people living with rare conditions. The report shows how we are following the rules set out in the UK Rare Diseases Framework.

The organisations that help with the writing include:

• The National Health Service in England, the NHS
• Genomics England
• The Medicines and Healthcare products Regulatory Agency
• The National Institute for Health and Care Excellence (NICE)
• UK Research and Innovation

These organisations make different parts of the health system work. This is the fifth report we have written. It looks at what we have done over the last year and what we will do over the next year.

Our 4 priorities

The UK Rare Diseases Framework has 4 priorities. Priorities are the most important things that we are going to try to do.

To help us decide what these 4 priorities are, we had a ‘national conversation’. This means that we heard from lots of people who live with rare conditions. These people came from all over England. We also heard from their families and other people who support them, for example charities.

We did all this because we want to make sure that people living with rare conditions help us to make their lives better.

Priority 1 is helping patients get a diagnosis faster

When a doctor or other healthcare professional looks after a person, they call that person a patient. A diagnosis is when a doctor finds out what is causing a person’s health condition. Sometimes the diagnosis will be that the person has a rare disease. At the moment, people can wait a long time to receive a diagnosis.

We want to help more people get a diagnosis faster.

Priority 2 is increasing awareness of rare conditions among healthcare professionals

Healthcare professionals are people who help look after you when you are unwell. This includes doctors, nurses and other healthcare workers. Some healthcare professionals may not know much about rare conditions because they don’t often meet people who live with them.

We want to help healthcare professionals learn more about rare conditions. This will help them give better care to people who live with rare conditions.

Priority 3 is better co-ordination of care

People living with rare conditions may need help from many different healthcare professionals and services during their life. The different healthcare professionals include doctors, nurses, dieticians (who tell people what they can eat to stay healthy) and physiotherapists (who show people the movements that can help their bodies). It is important that all these services work well together. When services work together, people get better care and can stay well for longer.

We want to help these services work together better.

Priority 4 is improving access to specialist care, treatment and drugs

Treatments are things that help you feel better, for example a medicine. Many rare health conditions do not have treatments yet. This is starting to change because of research. When new treatments or new ways of caring for people are found, it is important that people get access to them as soon as possible.

We want to help people living with rare conditions to get better access to care and treatment.

Short summary of the England Rare Diseases Action Plan 2026

Every year in England, we publish a rare diseases action plan. The action plan is a written document that explains what we are doing to support people with rare conditions. It includes actions, which are the steps we are taking to make it easier for people with rare conditions to get the healthcare they need.

This is the fifth action plan we have made. This year, there is only one new action in the rare diseases action plan. This new action aims to help everyone have fair access to healthcare.

The action plan has 2 main parts.

The first part tells you about the work we have done around the 4 priorities.

The second part tells you about 2 themes that the rare disease community wants us to focus on:

• sharing information about rare conditions and new technologies to help people with rare conditions
• making healthcare fairer for people with rare conditions

10 Year Health Plan  

The 10 Year Health Plan is part of the government’s mission to make the NHS in England work better for everyone. The government wants to achieve 3 main changes to improve the NHS. It is important to look at these 3 changes and how they can work for people with rare conditions.

The government has asked lots of people and services what they think about these changes. The government also asked people and services for suggestions on how health services can best be improved. This helped make the 10 Year Health Plan.   

Hospital to community

This change is trying to ensure people receive more of their care closer to home. This means they will have fewer visits to the hospital. It will not always be possible to receive care closer to home. For some people with rare conditions, it is best if they receive their care in a hospital. There will still be some changes which can make things easier for these people.           

Analogue to digital

This change means making better use of current technology to improve care for everyone. For example, by allowing you to see and read notes about your health or your test results on your phone.

Sickness to prevention

This change means doing more to prevent people from becoming unwell. It also means that when people are unwell, doctors act faster to prevent people becoming more unwell. It is all about making sure you get the care you need as early as possible.

Life Sciences Sector Plan 

Life science is the study of living things, like people, animals and plants. Life science is also about understanding the human body and finding ways to keep people healthy or treat them when they are sick. The Life Sciences Sector Plan is a document that commits the government to helping make it faster and easier for new medicines and treatments to be made and used in the NHS in England. This plan also aims to make it easier for life sciences companies to do their work in this country.

Updates on the UK Rare Diseases Framework priorities 

Helping patients get a diagnosis faster 

Sometimes people with rare conditions wait a long time to find out the name of their illness, which can be worrying for them and their family.

Sometimes a rare condition happens because there is a change in a person’s genes. This is called a genetic disease. Genes are like instructions for our body. They tell our body how to grow, develop and work properly. By looking closely at a person’s genes, a doctor can sometimes find out why they are ill.

Doctors can now sometimes use special genetic tests, known as genomic tests, to look at a patient’s genes. This helps doctors understand what condition the patient has.  

We want every person with a rare condition to have a faster diagnosis. To do this, in 2026 the NHS in England will open 2 new centres (one in the north and one in the south of England) to help children and adults who do not have a diagnosis.

At these centres, doctors will test a patient’s genes in detail. They will look for signs of specific rare conditions or changes that may explain the patient’s health problems.

The doctor will find out what is wrong with the patient. The doctor can then plan the right care and possible treatments for the patient.

These will be ‘pilot’ centres, which means they are being set up to see if they work well. If they do work well, more centres will open in other places.

Increasing awareness of rare conditions among healthcare professionals 

People with rare conditions often need care from many different parts of the NHS in England. This can include their general practitioner (also known as a GP or family doctor), hospitals and specialist centres.

Rare conditions can affect different parts of the body and so patients may need to see many different doctors and nurses. It is important that doctors and nurses understand rare conditions so they can recognise the signs, make the right diagnosis, and work together to give the best care and treatment.

There are more than 7,000 rare conditions. That is a very large number for anyone to remember or learn about. No doctor can know everything about every rare condition.

The NHS in England created an online library called GeNotes. This will help doctors and nurses and other people who work in healthcare to learn about rare conditions.

GeNotes has grown and now contains clear and helpful information about more than 150 rare conditions. It is linked directly to every GP’s computer system. This means family doctors can quickly look up trusted information about these rare conditions.

The NHS in England is always adding information about new conditions to GeNotes. This means that doctors will learn more and more about rare conditions.

The aim is to help doctors feel more confident so that they can make diagnoses more quickly. Then they can make sure people with rare conditions get the right care as soon as possible.

Better co-ordination of care 

This year, NICE published new information for doctors and nurses and other healthcare workers.

People with rare conditions often need care from many different doctors and nurses. The new information helps all healthcare professionals, such as doctors and nurses, to work together so that patients get the right care at the right time.

The information gives advice on how to look after people with different rare conditions, including conditions that affect the heart, a person’s breathing or the brain. It explains the best ways to look after people from the moment they are diagnosed and as they continue to need care.

This information is good for people because it helps make care safer and more reliable. Doctors and nurses have clear advice to follow, so people get the best possible treatment and support every time they visit a doctor or a hospital.

Improved access to specialist care, treatment and medicines 

People with rare conditions often need new treatments like medicines quickly, to make sure they don’t become too unwell. Some of these treatments can help them feel better or even live longer. For many rare conditions there is often no treatment right now. Scientists are working to develop more treatments.

New medicines must be carefully checked before people can use them. This checking makes sure the medicine is safe, that it works properly and that the NHS in England can afford it. This can take a long time. Sometimes people have to wait a long time before they can get the medicine they need.

To help fix this, the safety checks for each new medicine will now happen at the same time as the check on whether the NHS in England can afford that medicine. This means people can access new medicines much quicker.

Special teams of people who know a lot about rare conditions will make these checks. They will look closely at the new medicines to make sure everything is done properly. These teams will also introduce new ways of checking that medicines for rare conditions are safe.

To make these checks, they will talk to the people who are ill. They will also talk to their families and doctors to understand what patients and healthcare workers need.

We are doing this so that no one has to wait too long for a medicine if it can help them.

Our focus on the themes important to the community

Health equity

Health equity means making sure everyone has a fair and equal chance to be as healthy as they can be.

Not everyone finds it easy to get the care they need. Some people may struggle to see a doctor, get the right diagnosis or access to treatments. This can happen because of where they live, because their condition is very rare or for other reasons. When some people have more difficulty with this than others, this is called a health inequality.

People with rare conditions can face health inequalities. Because their condition is rare, it may take longer to get a diagnosis. They may need to see many different specialist doctors. They might also have to travel a long way for hospital appointments. Sometimes they may not get access to the right treatment as quickly as others. This can feel unfair.

This year a new action will help make healthcare fairer for people with rare conditions.

Over the next year, the NHS in England will work to understand where unfair differences happen and find ways to fix them. The NHS will tell doctors and hospitals what they learn. The NHS in England will use ideas from other NHS work that has helped make healthcare fairer for everyone.

The goal is to make sure that everyone with a rare condition has the same opportunity to get the right diagnosis, the right support and the right treatment at the right time.

Digital, data and technology

Knowing more about rare conditions helps doctors give better diagnosis, care and treatment.

Some rare conditions affect only a small number of people. Some may affect just one or 2 people in the whole country.

The NHS in England is using computers to collect and store health information safely and securely. This helps doctors and scientists learn more about rare conditions.      

Your information belongs to you. You have the right to know how it is used and who can see it. You can ask questions if you are unsure.

Right now, if you go to different doctors or hospitals, they might not know everything about you. You may have to tell your story again and again. Sometimes important information can be missed.

The single patient record aims to keep all your important health information together in one place. This includes:

• the medicines you take
• illnesses you have had
• your test results
• information about your genes

It is like having one big, smart notebook about your health that all your doctors can see. And you can see it on your phone through the NHS App.  

This will help doctors make safer choices and choose the right treatment for you. It can also make care faster because doctors do not have to wait to find out more about you from other doctors or hospitals.

This is especially helpful for people with rare conditions who see many different doctors. All the doctors can look at the same notebook and everyone understands your health in the same way.

Conclusion

This action plan shows that we want to keep improving the lives of people with rare conditions. We will do this by listening to the people who live with rare conditions and those who support them. By working together, we can make sure everyone with a rare condition gets the diagnosis, care and treatment they need to live the best life they can.