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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 the structure and function of INPP5K, a protein that is important in congenital muscular dystrophy.
Improving accessibility of bone density scanning for wheelchair users living with muscle wasting conditions
Dr Jarod Wong will lead a study involving people living with muscle wasting conditions and healthcare workers to improve the accessibility and performance of bone density scanning to make monitoring weak bones more straightforward.
Understanding the link between the shape of nuclei and DNA organisation in muscle cells from people living with laminopathy
Professor Francesco Saverio Tedesco and his PhD student at University College London aim to understand if changes in the shape of nuclei in muscle cells of people with laminopathies cause the loss of organisation of DNA.
Understanding the molecular processes that cause the progression of FSHD
Professor Giorgio Tasca and colleagues from Newcastle University will study muscle cells from people living with Facioscapulohumeral muscular dystrophy (FSHD) to see whether specific genes are switched on or off and where in the cells this happens.
Developing a mouse model and treatment for SORD neuropathy
Dr James Sleigh and colleagues from University College London will use a mouse model of SORD neuropathy to test potential gene therapies for this condition.
Developing a gene editing technique as a potential treatment for Duchenne muscular dystrophy
Professor Linda Popplewell and her PhD student at Teesside University will develop a new type of gene editing therapy for people living with Duchenne muscular dystrophy (DMD). This potential therapy could be suitable for many people with DMD unlike other potential treatments that target specific regions of the DMD gene.
Understanding genetic variations in different tissues of people with DM1
Dr Ami Ketley from the University of Nottingham will use a new technique and computer analysis to look at different tissues in mice that have the same genetic information as people with myotonic dystrophy type 1 (DM1) to understand what is happening in the heart, brain and muscles.
Developing a gene therapy for desminopathy
Dr Michael Keogh from Newcastle University will be developing a new gene therapy for a type of myofibrillar myopathy called desminopathy. He’ll be looking to see if it’s harmful for muscle cells in laboratory settings.
Developing a new gene therapy for periodic paralysis
Dr Roope Mannikko and his PhD student at University College London (UCL) aim to develop a new gene therapy to help prevent muscle weakening in people with periodic paralysis.
Using state-of-the-art genetic sequencing techniques to find genes that cause limb-girdle muscular dystrophies
Professor Henry Houlden from University College London (UCL), and colleagues from UCL and Newcastle University, will use state-of-the-art DNA sequencing techniques to identify genetic causes of limb-girdle muscular dystrophies in families who have no genetic diagnosis.
Dietary supplements as a potential new treatment for mitochondrial myopathies
Professor Rita Horvath and her team from the University of Cambridge will test the use of a dietary supplement as a potential new treatment for people with mitochondrial myopathies.
Understanding how Duchene muscular dystrophy affects brain function
Professor Patrizia Ferretti and her team will look at brain cells from people with Duchene muscular dystrophy (DMD) to improve our understanding of how brain function is affected in people with this condition.