Millions to benefit from launch of England’s first Rare Diseases Action Plan

Coinciding with Rare Disease Day 2022, we are delighted to announce we have been awarded £40 million new funding as a result of England's first Rare Diseases Action Plan, published today by the Department of Health & Social Care.

In recognition of the vital work undertaken by the NIHR BioResource and to support our ongoing efforts, the Health & Social Care Secretary, Sajid Javid, this morning confirmed this significant investment as part of the Rare Diseases Action Plan he was announcing.

Drawing on the UK’s strengths as a global leader in science, the funding will benefit millions of people with rare diseases as it allows us to continue searching for faster diagnosis of and new treatments for the 7,000+ rare diseases affecting an estimated 3.5 million people in the UK. Their complex nature means it is difficult for healthcare professionals to receive training on every condition or for patients to access the relevant specialist.

Professor Patrick Chinnery, NIHR BioResource Co-Chair and Lead for the Rare Diseases BioResource said:

“This new investment from NIHR will enable the NIHR BioResource to play a pivotal role in delivering the Government's Rare Diseases Action Plan to improve the health and well-being of people affected by rare diseases.”

People living with a rare disease, such as muscular dystrophy or Huntington’s disease, can go through multiple appointments and referrals before a diagnosis is made due to the complexity of conditions, making it difficult for individuals and their families to coordinate their care.

The Action Plan, published today, includes 16 commitments to further improve care and has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the NIHR, NHS Digital and the Medical Research Council.

Sajid Javid, Health and Social Care Secretary said:

“This action plan will speed up diagnoses and care and allow our fantastic workforce to better support patients, by drawing upon the UK’s world-leading science and technology.

“I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”

At the NIHR BioResource, we help researchers to identify genetic causes of rare diseases, to improve diagnosis and to support work to develop and validate treatments. To date, we have recruited over 21,000 patients and family members across more than 60 rare disease areas to our Rare Diseases BioResource.

We have facilitated some key research discoveries for rare diseases, including for the Next Generation Children study, which revealed that whole-genome sequencing (WGS) analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.


Two adults and child with medical centre staff member


Professor Lucy Chappell, Chief Executive of the National Institute for Health Research (NIHR) said:

"Around one in 17 people will develop a rare disease at some point in their lives, so while they are individually rare, cumulatively these diseases affect a substantial proportion of the population. The impacts on these individuals and their families are wide-ranging. Our research needs to continue to address early diagnosis, effective treatments and supporting them to live well with their conditions. 

“The work of the NIHR BioResource has already helped produce some truly ground-breaking discoveries, such as those made through the 100,000 Genomes Project, and today's significant new investment will ensure it remains at the cutting edge of the fight to understand rare diseases and help the people who have them."

Professor John Bradley, NIHR BioResource Chief Investigator:

“The NIHR BioResource is delighted to be part of the Rare Diseases Action Plan. Working with over 21,000 people affected by rare diseases, we are advancing the diagnosis and management of patients. This new funding will allow us to accelerate these advances and improve their lives.”

Actions in the Rare Diseases Action Plan include:

  • Improvements to newborn screening so diagnoses can be made earlier, including a new research pilot using whole genome sequencing to screen for rare genetic conditions in healthy newborns, and improvements to the way the UK National Screening Committee makes decisions on rare diseases
  • A new digital tool called ‘GeNotes’, which will allow healthcare professionals to quickly access information on rare diseases to improve diagnosis so they can provide the right care for their patients
  • Developing a toolkit for virtual consultations to increase the effectiveness of videoconference and telephone clinic calls, making it easier for patients to coordinate care between multiple specialists without the need to travel long distances
  • Supporting access to new treatments through new programmes like the Innovative Medicines Fund, while continuing to work with NICE on new treatments being assessed.
  • Monitoring uptake of drugs for patients with rare diseases to, by measuring the number of people accessing a drug and comparing with the number expected to access it, to ensure equal access to treatment across the country
  • Pilot new approaches to care for patients with undiagnosed rare conditions. Following consultation with rare disease patients and their families, these pilots are currently under design, but examples could include a holistic one-stop paediatric clinic or a more targeted adult neurology clinic, or the use of virtual expert multidisciplinary teams.

This follows the UK Rare Diseases Framework announced last year, which set out priorities for all four nations to speed up diagnosis, raise awareness and improve treatment and care. 

The devolved administrations will publish their own action plans by the end of 2022.

The NIHR BioResource would like to thank the NIHR, Department of Health & Social Care, the Health & Social Care Secretary, Sajid Javid, and all our partners for their support to date and we look forward to working together to continue our quest to improve patient outcomes.

This article has been adapted from a news piece first published on the NIHR website on 28th February 2022.


The Rare Disease Action Plan was published today, February 28th, to mark Rare Disease Day 2022, the annual focal point of the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse – but united in purpose.

Find out more about this year’s event and if you have a rare disease, how you can get involved by sharing your story.


Illustred people with a number highlighted to suggest those who have a rare disease

At the NIHR BioResource, we are able to recruit participants to our Rare Diseases BioResource only through a referral by a clinician. However, should you need to contact the Rare Diseases BioResource, we can be reached via 

If you do not have a rare disease, you can still contribute to the NIHR BioResource. Learn about our Healthy populations cohort and how to join the NIHR BioResource as a volunteer participant.

If you are a researcher looking for more information on the rare diseases we currently support research into, or you’re with a patient group and want to discuss ways the NIHR BioResource can support your efforts, please visit our website or contact us on