The three new research projects worth £390,000 that will be created at Newcastle University seek to improve diagnosis, progression, and potential new treatments of muscular dystrophy (MD).

The research will allow Newcastle University to assist in developing a gene therapy for desminopathy (a form of myofibrillar myopathy that causes weakness and affects muscle function) and to explore the molecular processes that cause the progression of facioscapulohumeral muscular dystrophy (FSHD), which most typically affects the muscles of the face, shoulder blades, and upper arms.

'Funding will make a significant difference'

Giorgio Tasca, Clinical Professor of Neuromuscular Science at Newcastle University, confirmed that the funding will help experts better understand the molecular processes that cause the progression of FSHD.

He said: “This funding will make a significant difference in people’s lives by finally leading to improved treatment options. It may provide people with new indicators to monitor condition progression and more effective and targeted therapies, reducing symptoms and offering hope for better outcomes.”

Jordi Diaz-Manera, Professor of Neuromuscular Diseases, Translational Medicine and Genetics at Newcastle University, will look to advance the diagnosis of people with muscle-wasting conditions via the use of MRI scans and artificial intelligence.

Professor Diaz-Manera said: “The aim of the research project is to help clinicians around the world to provide diagnosis of patients with neuromuscular conditions quickly, looking at technology like AI, to do so. After more than 20 years of seeing patients with neuromuscular conditions, I’ve realised how important it is to reach a diagnosis early.

“Ultimately, this research project will help to establish a tailored care plan and open the door to research and potential medications. This helps to do genetic counselling and allows the team to establish clear expectations for the future.”

'We fund the highest quality research'

The third grant will be funding Dr Michael Keogh, Senior Clinical Fellow and Honorary Consultant Neurologist at Newcastle University. His 12-month project, co-funded by the charity and AFM Telethon (France), will look to develop a gene therapy for desminopathy. 

The new grants will bring the total number of research projects funded by Muscular Dystrophy UK to 51, as they aim to bring research forward in order to improve the lives of those living with muscle-wasting conditions.

Dr Kate Adcock, Director of Research and Innovation at Muscular Dystrophy UK, said: “Every year at Muscular Dystrophy UK, we look to fund the highest quality research including the three projects at Newcastle University.”

Read more about Professor Tasca’s project, Professor Diaz-Manera’s and Doctor Michael Keogh’s project. Discover more about Muscular Dystrophy UK’s research projects here.