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Neuromuscular Disease

Consolidating excellence in Rare Disease Research and Networking

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There are between 6-8000 rare diseases (RD): these are largely genetic diseases, often affecting multiple organ systems and typically presenting in childhood. 95% of RD have no dedicated treatment…

Exploring novel ways to monitor motor function

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Newcastle has been chosen as a clinical centre and a consortium partner for a project to develop non-invasive tools for measuring mobility in rare disease patients.

Volker Straub and Anna…

Developments in Mitochondrial disease

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A new review examines endocrine manifestations and developments in mitochondrial disease research.

The review is supported by the NIHR Newcastle Biomedical Research Centre’s (BRC) Neuromuscular Disease Theme. It brings together…

Study could lead to advancements in rare disease treatment

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A new study has solved the old enigma in mitochondrial DNA disorders and advances the prospect of enhanced treatments for patients.

An international team, some of which are supported by…

Learning leadership in mitochondrial disease with FLIER

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Professor Gráinne Gorman shares her experience of learning through the Academy of Medical Sciences FLIER programme.

Find out how the Newcastle BRC’s Neuromuscular theme lead, and Director of the Wellcome…

Whole genome sequencing improves diagnosis of rare diseases

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A world-first scientific study has shown that whole genome sequencing can uncover new diagnoses for people across a variety of rare diseases and may deliver enormous benefits to the…

Researchers provide a new understanding of serious health conditions

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Researchers at Newcastle University establish how critical cell processes that are shown to be missing in some people, may provide a deeper understanding of several health conditions such as…

Understanding patient preferences in neuromuscular disease

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Neuromuscular Disease theme lead contributes to a vital paper that revealed results from a large patient preference study.

Grainne Gorman, Professor of Neurology at Newcastle University and Director of the…

Examining muscle strength for healthier ageing: a trainee’s story

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Dr Stuart Maitland is an NIHR Clinical Research Fellow at Newcastle University. During his Newcastle BRC-funded PhD, which focussed on the loss of…

Developing non-invasive biomarkers of skeletal muscle health in mitochondrial disease using Motor Unit MRI

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Principal Investigator: Professor Roger Whittaker

Mitochondrial diseases affect 1 in 4,500 people, with muscle weakness and fatigue being common symptoms. Several clinical trials have suggested exercise as an effective treatment,…

Continued funding for mitochondrial research

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Our close colleagues at the Wellcome Centre for Mitochondrial Research (WCMR) at Newcastle University have been successful in gaining further funding to support their vision until 2024.

The Centre’s Director…

Key milestone: first UK patient enrolled in DMD gene therapy trial at DMD Hub site

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Pfizer has announced that the first UK-based DMD patient has been enrolled in a gene therapy trial at Newcastle Hospitals, a DMD Hub site.

Pfizer have announced the enrolment of…