Pioneering research in Newcastle highlighted in government plan

3 March 2023

Research into rare disease from the NIHR Newcastle BRC has been highlighted as an example of pioneering work in a new report published by the government.

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The new Rare Diseases Action Plan for England has been published today by the Department for Health and Social Care (DHSC). It is designed to ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

Underpinning the actions set out in the plan, the work of the NIHR Newcastle BRC’s rare disease theme is included as an example of ‘pioneering research’ – in particular the work of the John Walton Muscular Dystrophy Research Centre (JWMDRC), led by our co-theme lead Professor Volker Straub.

JWMDRC launched the UK arm of a global gene therapy study in Duchenne muscular dystrophy. This is the first time gene therapy has been given in the UK to a patient with Duchenne muscular dystrophy, for which there is currently no approved disease-modifying treatment.

Professor Volker Straub is director of the John Walton Muscular Dystrophy Research Centre, and BRC theme lead for Neuromuscular Disease, Rare Diseases and Mitochondrial Dysfunction. He is also Professor of Neuromuscular Genetics at the Institute of Translational and Clinical Research at Newcastle University, and honorary Clinical Geneticist Consultant at Newcastle Hospitals.

He said: “DMD is a devastating condition that sadly shortens the lives of patients and significantly impacts quality of life. I am incredibly proud to be leading this study, and of the teams at Newcastle University and Newcastle Hospitals who have worked together to dose the first patient on the trial.”

Health Minister, Helen Whately, said: “Rare diseases are individually rare but collectively common, affecting 3.5 million people in the UK.

“We’ve made huge progress in the last year, making 1,000 complex new diagnoses thanks to advances in genomic research.

“But there is still more to do. Our Rare Diseases Action Plan will reduce health inequalities, help people participate in research and join up specialist services better for patients.”

Chief Scientific Adviser, Professor Lucy Chappell, added:

“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.”


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