For over 70 years, Newcastle has been a world leader in rare disease research and clinical care.
Our pioneering work in areas such as neuromuscular disease, immunodeficiency, rare liver conditions, and mitochondrial disorders has transformed patient outcomes. Through strong collaborations, we continue to push the boundaries of science and medicine to improve the lives of those affected by rare diseases.
At the heart of this effort is the Newcastle Centre for Rare Disease, a collaborative initiative bringing together the expertise of more than 120 researchers and clinicians from Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust.
Our Centre unites disease experts working on particular conditions or groups of rare diseases, with those specialising in methodologies, technologies, and disciplines that hold untapped potential to generate new knowledge. This hub of innovation drives groundbreaking research and accelerates the development of new treatments to improve care for people with a rare disease.
There are over 7,000 identified rare diseases, affecting about 3.5 million people in the UK and over 300 million people worldwide. Most are genetic, often affecting multiple organs, and 95% still have no dedicated treatment options. Newcastle’s research is helping to change that.
Rare Disease Day, held every February, aims to raise awareness and improve access to treatment and medical representation for those living with a rare disease and their families.
Read on to learn about five key ways we’re shaping the future of rare disease research.
Contents
- Advancing trials and therapy development for rare disease
- Strengthening UK engagement with international rare disease initiatives
- Driving the UK's rare disease research platform
- Pioneering gene therapy research in a new MRC Centre of Excellence
- Celebrating 10 years of the John Walton Muscular Dystrophy Research Centre
1. Advancing trials and therapy development for rare disease
We recently launched the LifeArc Centre for Acceleration of Rare Disease Trials in collaboration with experts from Birmingham University and Queen’s University Belfast. The centre is led by David Jones, Professor of Liver Immunology here at Newcastle. The £12 million research centre will improve clinical trials for patients with rare diseases.
Clinical trials are a major challenge for rare disease translational research. Innovative statistical analysis can help, but many fail due to difficulties in set-up and delivery, and the recruitment of small, dispersed patient populations. The centre will focus on improving the efficiency of rare disease trials and increasing the number of opportunities for patients to take part across the UK.
The team hopes to speed up the time it takes for rare disease treatments to reach those who need them.
The Centre for Acceleration of Rare Disease Trials is one of four new LifeArc Translational Centres for Rare Diseases. A team of researchers from the Mitochondrial Research Group, led by Professor Rob Taylor, play a key role in another Centre, the LifeArc Centre for Rare Mitochondrial Diseases. This centre is a national partnership with colleagues at Cambridge University, UCL, the Lily Foundation, and Muscular Dystrophy UK. It will focus on the development of new diagnostic tests, disease biomarkers, and treatments for patients with mitochondrial disease.
2. Strengthening UK engagement with international rare disease initiatives
We’re a partner in the European Rare Diseases Research Alliance (ERDERA). ERDERA is a seven-year, €380M initiative aiming to put Europe at the forefront of rare disease research.
Our role includes advancing genomic science and diagnostics as well as strengthening national and international collaboration.
As part of this work, we’re facilitating the set-up of National Mirror Groups in 37 countries to support rare disease policy development. Victoria Hedley, Rare Disease Policy Manager, coordinates the UK’s National Mirror Group, which launched in 2022 with experts from Liverpool and Leicester Universities. Each Rare Disease Day the Department of Health and Social Care highlights the UK group in its annual action plan as a key part of its commitment to international collaboration in rare diseases.
3. Driving the UK’s rare disease research platform
We play a key role in coordinating a platform dedicated to rare diseases called Rare Disease Research UK.
Funded by the Medical Research Council (MRC) and the National Institute for Health and Care Research (NIHR), the platform brings together the UK’s strengths in rare disease research to improve diagnosis and treatment.
It’s made up of 11 research groups or networks, known as ‘nodes’, along with a centralised co-ordinating team, known as the Hub. The Hub positions the work of the 11 nodes within the wider UK - and international - rare disease research ecosystem and addresses shared challenges by working across diseases. We lead this Hub, in partnership with The Newcastle upon Tyne Hospitals Foundation Trust and Genetic Alliance UK.
We also lead two of the research nodes:
- Rare renal diseases (Renal Ciliopathies National Network - led by Professor John Sayer)
- Histiocytic disorders (HistioNode: Histiocytic Neoplasms and HLH – led by Professor Matthew Collin)
4. Pioneering gene therapy research in a new MRC Centre of Excellence
Gene therapy is transforming rare disease treatment, and our experts are part of a new MRC Centre of Research Excellence.
The Centre for Research Excellence in Therapeutic Genomics is funded by the Medical Research Council, part of UK Research and Innovation, and will be led by Oxford University. The Centre aims to transform the diagnosis and treatment of genetic disorders by enabling the mass development of cutting-edge gene therapies.
In Newcastle Professor Sophie Hambleton and her team will focus on rare immune diseases, bringing their clinical and research expertise in inherited disorders.
The Centre will initially focus on developing genetic therapies for disorders of the blood, eye, and brain. The knowledge gained from treating these disorders will help extend these approaches to a growing number of disorders and organs, benefiting multiple research groups.
5. Celebrating 10 years of the John Walton Muscular Dystrophy Research Centre
For a decade the John Walton Muscular Dystrophy Research Centre, a partnership between Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, has led the way in neuromuscular disease research.
The Centre, led by Professor Volker Straub, delivers translational research to bring diagnosis, care, and therapies to people with neuromuscular diseases.
It’s played a key role in several medical breakthroughs. They include the development of transformative drugs for spinal muscular atrophy and the UK-first trials of gene therapy for Duchenne Muscular Dystrophy (DMD).
The centre also led the creation of university spin-out TREAT-NMD, a global experts network that ensures promising new therapies reach patients as quickly as possible.
Vamorolone, a drug for DMD, has been approved by the National Institute for Health and Care Excellence for use in the NHS in England, Wales and Northern Ireland in patients four years and older. This pioneering drug was developed with the help of experts at the Centre, and this news, coinciding with the Centre celebrating its 10-year milestone, is a testament to the outstanding work it conducts.
Shaping the future of rare disease research
At Newcastle University, we’re dedicated to driving innovation in rare disease research. It’s part of our commitment to helping people live better, for longer.
By leading national and international collaborations we’re improving diagnostics, developing new treatments, and influencing policy.
Our expert researchers are dedicated to making sure rare disease patients receive the care and treatments they need, now and for the next 70 years and beyond.
You might also like
- visit the Newcastle Centre for Rare Disease Research website, follow the Centre on X and read the Centre for Rare Disease brochure
- read about our involvement in a new landmark study: medical breakthrough unlocks rare disease discovery
- learn about rare disease research at the NIHR Newcastle Biomedical Research Centre
- explore more rare disease blog posts from our research community
- visit the John Walton Muscular Dystrophy Research Centre website
- learn more about Rare Disease Research UK
- find out more about the LifeArc Centre for Acceleration of Rare Disease Trails
