Policy paper

England Rare Diseases Action Plan 2025: simplified version

Published 28 February 2025

Applies to England

This is a simplified version of the England Rare Disease Action Plan 2025. It was created to help people with learning disabilities understand the information more easily.

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 we published (made available for others to see and read) the UK Rare Diseases Framework. This set out how the UK will improve the lives of people living with rare diseases over 5 years from 2021 to 2026.

A rare disease is a health condition that affects one person or less out of every 2,000 people. A health condition is a problem with your body or mind that can make you feel unwell. For example, this means if we had a room with 2,000 people in it, only one person in this room will be affected by a rare disease.

Rare means something that does not happen often, but there are a lot of different rare diseases. In the UK there are a lot of people, so altogether around 3.5 million people have a rare disease. This is a lot of people.

The government runs the country and has responsibility for drafting laws and making the NHS work. The Department of Health and Social Care is part of the government.

In England, every year the Department of Health and Social Care and its partners write a report to explain what we have been doing to help people living with rare diseases. Examples of the partners include:

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

This is the fourth report we have written. It looks at what we have done over the last year and what we will do over the next year.

We heard from lots of people who live with rare diseases, as well as their families, charities and other organisations. We want to make sure that the voice of people living with rare diseases helps us make decisions.

What our priorities are

Our plan has 4 priorities. Priorities are the most important things that we are going to try to do first.

To help us understand what these 4 priorities are, we spoke to people living with rare diseases and the people that care for them. To do this we had a ‘national conversation’. This meant we heard from lots of people who live with rare diseases, as well as their families, charities and other organisations that help people with rare diseases. We had a national conversation because we want to make sure that the voice of people living with rare diseases guides us when we make decisions. Patients, their families and carers know themselves or their loved one best.

Helping patients get a final diagnosis faster

A diagnosis is when your doctor finds out what is causing your health problem. People can wait a long time before receiving a diagnosis and some people might not ever be diagnosed. We want to help more people get a diagnosis, faster.

Increasing awareness of rare diseases among healthcare professionals

Healthcare professionals are people that look after you when you are unwell, for example doctors and nurses. Because these diseases are rare, we want to help people who work in healthcare (such as doctors, nurses and other people) know more about them so they can better care for people.

Better co-ordination of care

People with rare diseases can need support from many different parts of the health and social care system throughout their life. It is important that all these different services work together to keep people well. We want to help these parts of the system work together.

Improved access to specialist care, treatment and drugs

Many rare diseases do not have treatments or medicines yet, but this is changing due to research. Treatments are things that can help you feel better. When new treatments or new ways for caring for people are found it is important people get access to them as soon as possible.

Short summary

Every year in England we share the rare disease action plan with the public. This plan is a written document which lists action points. Action points are the ways or things we are doing to make it easier for people with rare diseases to get help. This is because many people with rare diseases find it hard to access the healthcare they need.

This is the fourth action plan we have shared. The plan has 2 main sections. The first section looks at the year ahead and lists all the new things we are going to do in the next year. It also includes information you might find helpful or interesting. The second section looks at the last year and lists all the things that have happened over the past year. All the actions are listed under which priority they fit into.

All the actions have been built with the National Health Service England and other partners from the public health sector. In the UK, the National Health Service is commonly also called the NHS.

The NHS has many parts, for example the local general practice and the local hospital and emergency department. Sometimes you might go and see a specialist doctor in a hospital far from where you live. These are places you can go to get help for your health or when you are unwell.

The action plan also lists other things that have happened that affect people living with a rare disease.

In this action plan we also write about commitments. A commitment is an agreement to do something.

10 Year Health Plan

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

Hospital to community

This means people receive more parts of their care closer to home in their local communities. For example, they will spend less time in the hospital and have to visit the hospital less for appointments. For some people with a rare disease it will not always be possible to receive care in the community because sometimes it is best they receive their care in a hospital.

Analogue to digital

This means making better use of new technologies and using new technology to improve care. For example, this can mean that in the future you can see and read notes about your health or your test results on your phone and not just on paper notes in hospital when you see your doctor.

Sickness to prevention

This means doing more work to prevent people from becoming unwell. It can also mean when people are unwell we do work to prevent people becoming more unwell. This could mean making changes to make sure you get the care you need as early as possible.

The government has asked lots of people and services what they think about these ideas for changes and for suggestions on how health services can best be improved.

New actions for the year ahead

There are 3 new actions the government is introducing in the year ahead.

People with rare diseases sometimes need to see many different doctors to get different kinds of support or treatment. This can mean going to the hospital on many different days. Sometimes this also means your doctors may not know everything another doctor is doing because you see them at different times.

People with rare diseases often have to attend many hospital appointments on different days. They also have to retell their stories many times to different doctors, which can be tiring and upsetting for some people.

Our first new action is for clinics for multi-system disorders

These clinics mean that you go into the hospital or a local centre on just one day. During this one day you see more than one doctor - you may see all the doctors you needed to see over one whole year in one day. For example, this can mean you stay in one room, and all the doctors come to see you at different times in this room. You may also have tests during this day, for example a blood test or a picture of your lungs.

In the UK, there are some clinics that have been created to support people living with more than one health condition. These are called ‘multi-system disorder’ clinics. Multi-system disorder clinics already exist but there are not many of them. This is because they are difficult to put into place. We want to make it easier for them to be put into place.

Over the next year we will work to change the rules to make it easier to have these clinics.

Our second new action is to make it easier to do research

Being able to have treatment that makes you feel better is very important. Sadly, there is no treatment for most of the rare diseases. We want to change this and help find more treatments to make more people feel better.

A big part of finding treatments is research. Research can be looking at new ways to treat people or making better medicines. Clinical trials are one type of research. Clinical trials can be used to test treatments and to see if they help people feel better or live longer, healthier lives.

Clinical trials are really important to make sure that treatments work and have a positive effect on people. It is important that new treatments are safe.

Clinical trials are difficult for rare diseases because some rare diseases only affect a very small number of people. This means there are not many people who can take part in the research.

New rules for clinical trials were shared in 2024. The new rules should help make it easier to do clinical trials for rare diseases. The new rules could also mean more clinical trials can happen for rare diseases.

It is important that people know how to take part in research and are supported to be able to. The new rules aim to make this easier.

Our third new action is for medicines

Some rare diseases affect a very small number of people. Some might affect only one or 2 people.

We know that some rare diseases are caused by one change in our genes. Genes are like the instruction manual for our body. Genes tell our body how to grow and develop.

Sometimes scientists can now make medicines for this one change in the genes that cause people to be unwell. Medicines like these are called ‘individualised’ therapies because they are designed for each individual person with that disease. You may also hear them be called highly personalised therapies.

For some rare diseases, these therapies could make a big change to people’s lives and make them feel much better.

Individualised therapies are a very new type of medicine. They can be very expensive to make and also very hard to make. This can mean that it can be very hard for people who need to have access to them.

The government wants to make it easier for individualised therapies to be made for the people who need them. We also want to make sure they are safe.

We will have to write very clear rules and work with many different people for this, such as people who make sure medicines are safe. The goal is to make clear rules so in future people access individualised therapies in the NHS where there is a treatment that works for them.

Previous actions

Because this is the fourth action plan we have made, there are some actions from previous years that are still happening.

There were 28 actions from previous years that we have been working on. Some of these have now been completed in the last year, but many are continuing.

These actions are across all 4 of our priorities.

Looking for health issues in babies study update

The Generation Study is research that looks at how we can treat health issues caused by our genes earlier. Genes are like the instruction manual for our body. Genes tell our body how to grow and develop. Sometimes health problems are caused by our genes. This is called a genetic disease. The Generation Study will look at the genes of 100,000 babies and look for over 200 diseases. We shared a list of the over 200 conditions the study will look at.

Communications tool to help healthcare professionals in having sensitive conversations

Sharing what it’s like to live with a rare condition with a healthcare professional can be upsetting and difficult. We want to better support healthcare professionals in having these difficult conversations. To do this, we shared a tool to help. It includes how to have difficult conversations with people about their genes and health so that they feel supported.

Instructions for services for patients with rare diseases are now being published which include requirements for care co-ordination

Co-ordination of care is how everyone works together to deliver help to people. This can include getting help for your health closer to home and not travelling as far for your care and attending fewer hospital or clinical appointments. When setting up services for people with rare diseases, we have worked to make sure that people think about making different services all work together well.

The National Institute for Health and Care Research has made improvements to its Be Part of Research Platform to make it easier for people with rare diseases to use it

It is important that people know how to take part in research and are supported to be able to. The Be Part of Research Platform is to help people find and take part in research across the UK. We made changes to make this easier for people with rare diseases.

There are also other things we think are important to make things better for people living with rare diseases. These are:

• listening to people and their families
• working with other countries to learn from each other and hear how they support people with rare conditions in their countries
• doing research to learn new things about rare diseases
• making the best use of people’s information in a safe and secure way
• working with other teams in government and with different kinds of services
• making access to support and treatments fair for everyone no matter where they live in the UK