How we are stronger together in rare disease research

By Professor David Jones OBE, Director of Newcastle Centre for Rare Disease


In Newcastle, we are incredibly proud of our long and distinguished history of excellence in rare disease research and clinical care.


I’d like to mark this year’s Rare Disease Day (29 February 2024) by reflecting on some of the remarkable work that unites our clinical and research communities. With a keen focus on creating a collaborative environment for cross organisational and transdisciplinary rare disease research, we have a shared vision of delivering better health outcomes and improving the lives of those affected by rare diseases.


Firstly, are home to the Newcastle Centre of Research Excellence for Rare Disease (NUCoRE RD), which benefits from decades of cross working between Newcastle University and Newcastle Upon Tyne Hospitals NHS Foundation Trust, which form part of Newcastle Health Innovation Partners (NHIP).


We launched NUCoRE RD in 2020, to unite experts, research teams and clinical units working in rare disease to collaboratively improve the lives of people living with a rare disease. 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’, for the benefit of patients.


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


Additionally, Newcastle is home to the John Walton Muscular Dystrophy Research Centre (JWMDC), which is part of Newcastle Hospitals and Newcastle University. The centre brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases.


I was delighted to hear last week that the centre was awarded a prestigious Centre of Excellence award from leading national charity, Muscular Dystrophy UK, in recognition of its outstanding commitment to improving health and care for people living with muscle wasting and weakening conditions.  You can read more about the award here.


We were pleased to share some of our work and welcome Liz Twist MP recently as she visited experts at the International Centre for Life to learn about how Newcastle is leading the way in rare disease research.


The Labour MP for Blaydon, Liz Twist also chairs the Westminster All Party Parliamentary Groups (APPGs) on Rare, Genetic and Undiagnosed Conditions. Liz met NHS and university rare disease teams during her visit, this included a special tour of the JWMDC. You can read more here.


Liz rounded up her visit by meeting Stephanie Tanner, a clinical nurse specialist and mother of two sons who have Spinal Muscular Atrophy Type 2 (SMA). SMA is a rare genetically inherited neuromuscular condition that causes progressive muscle weakness and loss of movement due to muscle wasting (atrophy). Freddie, aged five, and Louis, aged two, both receive treatment from the muscle team in the John Walton Muscular Dystrophy Research Centre at the International Centre for Life.


You can hear more about Stephanie’s story here with our special video outlining how rare disease research has impacted her boys and her family.


It was also great to hear the news recently that Newcastle be the central co-ordination and administrative hub for a new platform bringing together UK strengths in rare disease research.


The UK Rare Disease Research Platform has been established with a £14 million investment over five years by the Medical Research Council (MRC) and the National Institute for Health and Care Research (NIHR). The aim of the new platform is to bring together expertise from across the UK rare disease research system to foster new and innovative treatments for those directly and indirectly impacted by rare conditions. It will overcome some of the most common challenges in the diagnosis, management and treatment of rare diseases. You can read more about this announcement here.


Rare Diseases collectively affect around 3.5 million people in the UK at any given time.  Here in Newcastle, we know that it is only by working collaboratively that we can ultimately make faster progress in understanding these diseases, development of new treatments, and improved outcomes – for patients and their families.

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