Alfie is 19 and lives with Duchenne. In recognition of Duchenne awareness day, he shares his story about living at university, his passions for history and travel, and his thoughts on why awareness days like this are important.
Professor Haiyan Zhou and her PhD student are exploring two ways to correct a type of gene change in muscle wasting conditions, which could lead to future treatments.
Professor Peter Zammit and his PhD student are studying how the DUX4 gene affects muscle cells in FSHD, to help find new ways to treat the condition.
Professor Giorgio Tasca and his PhD student are gathering vital information about distal and myofibrillar myopathies to help improve diagnosis, care, and support the development of future treatments.
Dr Grace McMacken is setting up the first specialist clinic in Northern Ireland for people who have symptoms of a muscle wasting condition but don’t yet have a genetic diagnosis. The clinic aims to improve diagnosis, care, and access to treatment.
Dr Virginie Mariot is exploring a new way to identify potential FSHD treatments, which could help scientists choose the most promising ones to take into clinical trials.
Dr Rebecca Jones and her PhD student are exploring how changes to a protein called VCP causes muscle weakness in people with VCP MSP-1
Dr Kieren Hollingsworth is developing a new MRI scan to measure muscle damage more clearly in FSHD, making it easier and faster to test potential treatments.
Professor Darek Gorecki is using frogs with a type of Duchenne muscular dystrophy (DMD) to explore how the condition begins and whether it could be treated earlier in life.