MUSCULAR Dystrophy UK has announced a £1.5 million investment in 10 new research projects across England, Scotland and Wales, supporting work aimed at improving diagnosis, treatment and quality of life for people living with neuromuscular conditions.
The funding will support researchers in Cardiff, Glasgow, London, Newcastle and Nottingham and brings the charity’s total current research commitment to more than £10 million.
Muscular Dystrophy UK is currently supporting 56 active projects covering more than 25 conditions, with research taking place across all four UK nations.
The latest funding covers conditions including Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, limb girdle muscular dystrophies and ADSS1 myopathy.
For the first time in the charity’s history, funding will also support research into Carey Fineman Ziter syndrome and spinal muscular atrophy with respiratory distress.
Several of the new awards will also support PhD students, with the charity describing the development of the next generation of neuromuscular researchers as an important part of its long-term strategy.
Dr Kate Adcock, Director of Research and Innovation at Muscular Dystrophy UK, said:
“A key ambition of our ten-year strategy is to broaden our research portfolio and accelerate the development of new treatments.
“We’re delighted to continue our investment into funding research with the potential to transform the lives of those affected by neuromuscular conditions. With this latest research grant funding of £1.5 million, we’re reaching new areas, investigating new conditions and supporting PhD students to become the next generation of scientists.”
Research into rare conditions in Cardiff
At Cardiff University, Muscular Dystrophy UK is funding a four-year PhD project led by Dr Fabrizio Pertusati into ADSS1 myopathy, an extremely rare inherited muscle condition for which there is currently no available treatment.
The work follows promising findings from an earlier charity-funded study that identified a possible way to restore a molecule missing in people with the condition.
Researchers will now look at developing a treatment that can reach muscles more effectively, potentially reducing the burden of future therapies for patients.
Dr Fabrizio Pertusati, Lecturer in Medicinal Chemistry at Cardiff University, said:
“Being awarded a Muscular Dystrophy UK PhD studentship is a wonderful opportunity. It means our research has been recognised as something that can genuinely help people living with muscle wasting conditions.”
Preventing fractures in Duchenne muscular dystrophy
At the University of Glasgow, Dr Jarod Wong will lead a three-year project focused on boys with Duchenne muscular dystrophy.
The study will develop a tool to identify those at greatest risk of spinal fractures, with the aim of helping clinicians intervene earlier and begin bone strengthening treatment before a fracture occurs.
Broken bones can have a significant impact on mobility, independence and quality of life for people with Duchenne muscular dystrophy.
The charity hopes the research will ultimately help doctors target treatment more effectively while avoiding unnecessary intervention for those at lower risk.
Four projects backed at Newcastle University
Newcastle University will receive funding for four projects, including research into previously unexplained forms of muscular dystrophy.
Professor Volker Straub and his team will investigate the LPCAT3 gene, which researchers believe could be linked to a previously unidentified form of muscular dystrophy.
A second project will examine why people with sarcoglycanopathies, forms of limb girdle muscular dystrophy, can experience very different levels of disease progression despite having the same genetic diagnosis.
The work could lead to a better understanding of the condition and identify possible targets for future treatments.
Professor Jordi Diaz Manera will also receive funding to develop a new form of muscle imaging designed to identify active muscle damage.
If successful, the technique could give clinicians information that is not currently available through existing scanning methods.
Another Newcastle project, led by Dr Jose Verdu Diaz, will compare MRI scans from people living with muscle wasting conditions to develop an online tool capable of helping doctors understand how individual conditions may progress.
The technology could be particularly valuable in improving knowledge of rare muscle conditions where relatively little clinical data currently exists.
Supporting research across the UK
The latest funding forms part of Muscular Dystrophy UK’s wider research programme, with additional awards being made to researchers in London and Nottingham.
The charity supports more than 110,000 children and adults across the UK who are living with one of more than 60 muscle wasting and weakening conditions.
Alongside funding scientific research, Muscular Dystrophy UK campaigns for improved accessibility, access to treatments and appropriate care, while providing specialist support to people living with neuromuscular conditions and their families.
The funding announcement coincides with Muscular Dystrophy Awareness Month during September, when the charity is highlighting the experiences of people affected by muscle wasting conditions and raising funds for research and support services.
More information about Muscular Dystrophy UK’s research programme is available at: musculardystrophyuk.org/research.
