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Funding and support for rare diseases research will drive progress for patients

Published: 28 February 2023

The NIHR is to launch several new initiatives and review its progress as part of the government’s newly released second Rare Diseases Action Plan for England, launched today.

A rare disease is one that affects fewer than 1 in 2000 people - most of these conditions are genetic. But although each disease is rare, collectively they are common, with 3.5 million people affected in the UK.

New funding for rare diseases research

We are leading the way in supporting research into rare diseases and making advances in developing new tests and treatments.

The new funding includes:

The Rare Diseases Action Plan has been developed alongside partners across the health system and in collaboration with people living with rare conditions. Its aim is to report on progress in improving the lives of people living with a rare disease, and to outline plans for further research in 2023.

Professor Lucy Chappell, NIHR CEO said,

"The impacts of rare diseases on individuals and their families are wide-ranging. Our research plays an important underpinning role in furthering the understanding, diagnosis, treatment and care for people living with rare diseases.

“The action plan highlights significant advances in rare disease research supported through our funding. There is always more to do and our commitments will be supported by the recently announced funding for ground-breaking research into the NIHR Biomedical Research Centres and the Medical Research Council (MRC)-NIHR UK Rare Disease Research Platform.

“This research will continue to drive progress and foster collaboration to translate scientific breakthroughs into clinical advances.”

Progress in 2022

The 2022 action plan announced £40m in funding for the NIHR BioResource, which is supporting research using genetic information to find new tests and treatments for rare diseases. In the past year the BioResource continued to recruit people with rare diseases from 60 NHS trusts in England, adding more than 2,500 new volunteers across 40 disease areas. The funding has also supported several new research studies, including an industry partnership to generate stem cells that can be used to test new treatments for rare diseases.

The NIHR-funded CONCORD study (Co-ordinated Care of Rare Diseases) was also completed in 2022. This 2-year research project found evidence of a lack of co-ordinated care that could have negative effects on the physical and mental health of people with rare diseases and their families. The study published a landmark definition of coordination of care in rare diseases.

In addition, Be Part of Research, the NIHR’s online service that makes it easy for people to find and take part in health and care research, is now available through the NHS App in England. Increasing awareness and use of the Be Part of Research service among the rare disease community will help increase opportunities for people with rare diseases to take part in research.

Biomedical Research Centres

NIHR’s Biomedical Research Centres (BRCs) are leading ongoing research into a variety of rare diseases. The Great Ormond Street BRC is developing a new gene therapy to treat a form of immunodeficiency known as ADA-SCID, which can be fatal in the first 2 years of life if it isn’t treated. The new therapy has been successful in 48 out of 50 children treated so far.

At the NIHR Newcastle BRC, researchers have launched the UK arm of a global gene therapy trial into Duchenne muscular dystrophy. This disease causes muscle weakness that worsens over time, and people with the condition will usually only live to their 20s or 30s.

At the NIHR University College London Hospitals BRC, investigators have pioneered new gene therapies that allow people with rare primary immunodeficiency disorders (PID) to lead long and healthy lives. The team has validated stem cell therapies as a safe treatment for adults with PID, enabling a new NHS policy ensuring they can access previously unavailable life-saving treatments.

NIHR Cambridge BRC’s Next Generation Children’s Project used rapid whole genome sequencing to study hundreds of severely ill babies and children in intensive care and showed that 30% of these children had unsuspected rare genetic disorders. Researchers were able to give a diagnosis of rare childhood conditions within weeks, leading to a change in treatment and reducing the need for further invasive tests. Any child admitted to intensive care with an unexplained condition across NHS England is now eligible for whole genome sequencing.

Read more about NIHR's work in rare diseases research

Read Chloe and Tom's story of living with a rare inherited eye condition and taking part in research

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