Working together to improve the lives of people with a Rare Disease

This Rare Disease Day (28 February 2023) we are shining a light on the incredible work delivered by partners across Newcastle in rare disease research and care delivery. 

As a centre of research excellence, Newcastle has a distinguished history of research and clinical care in rare disease. It is home to the Newcastle Centre of Research Excellence for Rare Disease (NUCoRE RD), which benefits from decades of collaboration between Newcastle University and Newcastle Upon Tyne Hospitals NHS Foundation Trust, which form part of Newcastle Health Innovation Partners (NHIP).

Rare Disease Day is an international day to raise awareness amongst the general public, the clinical community, and decision-makers about rare diseases and their impact on people affected and their families.

Did you know?

  • There are between 6000-8000 rare diseases
  • Though individually rare, 1 in 17 people is directly affected by a rare disease of some sort
  • Rare diseases are largely -though not always- genetic
  • They often start in childhood but can present at any stage of life
  • Multiple organ systems are often affected
  • 95% have no dedicated treatment option.


The Newcastle Centre of Research Excellence for Rare Disease unites over 100 experts from across Newcastle University and Newcastle Hospitals – working collaboratively to improve the lives of people living with a rare disease. By bringing together a breadth of scientific expertise alongside patient cohorts, the centre can provide a single front door in the design and execution of clinical research, providing a better disease understanding, developing and delivering better treatments, optimising care and influencing policy.

Researchers and clinicians in Newcastle are actively involved in a large number of rare diseases, affecting:

  • Mitochondria
  • Eye
  • Brain
  • Skin
  • Endocrine organs
  • Fertility
  • Liver
  • Bone and joints
  • Blood
  • Rare Cancers
  • Muscles and nerves
  • Lungs
  • Kidneys
  • Metabolism
  • Immune system
  • Inflammation


Professor David Jones OBE, Director of Newcastle Centre for Rare Disease, said: “We launched this Centre in 2020, to unite experts, research teams and clinical units working in rare disease (in some cases, for decades). Our philosophy is that by bringing together this diverse expertise and fostering new interdisciplinary collaborations and knowledge-sharing, we ‘make the whole greater than the sum of its parts’.”

Victoria Hedley, Centre Co-Lead and Rare Disease Policy Manager, added: “Each rare disease patient faces their own personal challenges. But there are often commonalities between conditions, both in patient experience and approaches to improving treatment. We established the Newcastle Centre for Rare Disease to give us “beginning to end” capability across multiple diverse disease areas. We focus on innovation, spanning diagnostics to advanced therapies, basic science to clinical delivery, social science to policy.”


Groundbreaking work in rare disease in Newcastle

Newcastle is leading the way in rare disease research – some of its successes include:

  • Treatment for rare cancer pioneered in the North East:

  • Delivery of the first gene therapy for Duchenne Muscular Dystrophy in the UK:

DMD gene therapy trial – Press Office – Newcastle University (

  • Newcastle doses first patient in Europe as part of rare disease clinical trial:

  • Family helps with the discovery of the gene responsible for multiple skin tumours:

Living with rare disease – Julie’s story – Newcastle Hospitals NHS Foundation Trust (

  • Liz Twist MP and chair of the APPG on Rare, Genetic and Undiagnosed Conditions, raises awareness of mitochondrial disease and dysfunction to ensure continued funding:

Liz Twist MP Supporting Mito Research – Wellcome Trust Centre for Mitochondrial Research (

  • New liver and kidney disease identified:

TULP3-related ciliopathy – Press Office – Newcastle University (

  • Genetic basis of 3 mitochondrial diseases identified via new approach:

  • The NIHR Newcastle BRC’s research theme in neuromuscular disease, rare diseases and mitochondrial dysfunction sits at the heart of this world-class environment:

Rare Disease Day – changing the landscape and offering hope for patients – NIHR Newcastle Biomedical Research CentreNIHR Newcastle Biomedical Research Centre


Newcastle Centre for Rare Disease: International Rare Disease Day Event

To find out more about research into rare disease in Newcastle, you can attend a special event on 9 March at Newcastle University, hosted by the Newcastle Centre for Rare Disease. Find out more here or email

To find out more about Newcastle Centre for Rare Disease, visit: Newcastle Centre for Rare Disease – Centre for Rare Disease – Newcastle University (


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