This year, we will be funding 12 exciting research projects, including three three-year project grants, five two-year project grants, two 12-month grants and two four-year PhD studentships.
Two of the new grants will cover research that will be relevant to a wide range of muscle-wasting conditions. The rest will cover the following conditions: Duchenne muscular dystrophy, spinal muscular atrophy (SMA), congenital muscular dystrophies (including LAMA2-RD, Collagen-VI and INPP5K-related), congenital myasthenic syndromes, mitochondrial myopathy, and Charcot-Marie-Tooth disease (CMT).
It is the first time in several years that we have supported new research in these last three conditions and several of the other projects are building on previous work funded by MDUK.
The total award value amounts to £1.3M over the lifetime of the grants, and MDUK’s research grant commitment rises to 41 projects.
These are the grants we awarded in the 2022 round:
Developing online tools for easier diagnosis of neuromuscular diseases
Professor Jordi Diaz-Manera from Newcastle University aims to develop new online MRI-based diagnostic tools for muscle diseases through the implementation of artificial intelligence in this two-year grant.
“We decided to try to help the medical community by creating an informatic tool that could assess muscle MRIs automatically and suggest diagnosis. We want to make this tool available to clinicians around the world for free in order to really make an impact on how patients are diagnosed. If we achieve our aims, I will finally have the feeling that we are helping clinicians and patients to shorten the diagnostic journey,” says Professor Jordi Diaz-Manera.
This is important for people with a neuromuscular condition, as it is key to accessing genetic counselling, tailored care, and creating clear expectations about the future. It also opens the doors to accessing clinical trials and helps to reduce anxiety and frustration for undiagnosed patients.
Professor Louise Rose and colleagues at King’s College London will identify and develop a set of measures for cough assistance and airway clearance that can be used in clinical trials for neuromuscular disorders.
This work by Professor Francesco Muntoni from University College London will investigate why people with Duchenne muscular dystrophy, who are on the same treatment, respond to it differently.
Improving gene therapy for congenital myasthenic syndrome
The group of Dr Yin Dong at the University of Oxford will use a mouse model of congenital myasthenic syndrome to test the success of gene therapy in combination with a standardised treatment for this condition.
“It’s heart breaking to see people living with muscle-wasting conditions, knowing that we could potentially help them, but it has been very difficult to obtain funding to develop treatments for an ultra-rare hereditary disease, particularly in a post-COVID world. This is why we are ecstatic that the MDUK decided to fund this project,” said Dr Yin Dong.
“Positive results from this study would allow us to seek regulatory approval to initiate clinical trials that could change the lives of many congenital myasthenia patients,” he added.
Understanding the biology underlying a form of congenital muscular dystrophy
This PhD studentship, to be supervised by Dr Laura Swan at the University of Liverpool, will investigate how the structure and function of a congenital muscular dystrophy protein, called INPP5K, affects the progression of the condition.
This grant by Professor Linda Popplewell at Royal Holloway, University of London, aims to assess if molecular patches designed to reduce muscle scarring can improve the efficacy of therapies that promote dystrophin restoration.
Understanding the impact of additional genes in animal models of LAMA2-related dystrophies
Professor Jennifer Morgan at University College London will work with colleagues in Italy to investigate how alternative genes and molecular pathways (a series of chemical reactions that control how cells work) affect the progression of the merosin-deficient LAMA2-related dystrophies (LAMA2-RD) by using animal models of LAMA2-RD.
Developing advanced molecular patch therapy for collagen VI-related congenital muscular dystrophy
Dr Haiyan Zhou and colleagues at University College London will work to improve the delivery of molecular patches into muscle cells with the aim to develop effective therapies for collagen VI-related congenital muscular dystrophy.
New concepts for the treatment of mitochondrial myopathies
This PhD studentship, to be supervised by Professor Rita Horvath at the University of Cambridge, will explore whether controlling stress signals and taking nutritional supplements (increasing the intake of particular protein building blocks, known as amino acids) can have a positive effect on treating non-reversible mitochondrial myopathies.
“I have previously studied a unique, ultra-rare reversible mitochondrial disease called reversible infantile COX deficiency myopathy, but we only found the molecular cause. Over the past 10 years, I wanted to understand why these children recover from a severe mitochondrial myopathy to possibly develop treatment for other, non-reversible mitochondrial myopathies,” explains Professor Rita Horvath.
“In collaboration with clinicians and scientists from all over the world we finally understood the mechanism of recovery.
In this project the funded PhD student will study whether the pathways involved in the recovery in the reversible form can be also applied to other common forms of mitochondrial myopathies. If this is successful, we can suggest some treatment for many people with mitochondrial myopathies,” she added.
Identification of CMT therapies through drug repurposing
Dr Ivana Barbaric and her team at the University of Sheffield will use stem cells that carry a genetic change causing CMT Type 2A to identify potential treatments.
“CMT became a topic of my research about six years ago, after I had met a person with the condition. I came to appreciate what an impact CMT has on the people it affects. As a stem cell scientist, I worked with my group to develop a human stem cell-based model of CMT, which enabled us to study how CMT leads to nerve degeneration and muscle weakness,” explains Dr Ivana Barbaric.
“If our project is successful, it will represent only the first step towards finding a treatment, but it is an important step, and we are very excited to be a part of this.”
Assessing a non-invasive approach to detect myopathy in children
This grant by Dr Eduardo Martinez-Valdes at the University of Birmingham focuses on testing the possibility of detecting and monitoring congenital myopathy without the use of needles.
A pilot study to establish a new tool to investigate motor skills in SMA mouse models
In this pilot study, Dr Melissa Bowerman at Keele University will aim to establish new tools for assessing mobility skills that can pick up even small but highly important differences in movement, in SMA mouse models.
You can find details of these and other studies that we fund here.