While muscle-wasting conditions affect around 70,000 people in the UK, the conditions MDUK supports are rare and diverse. They all have a lot in common and research into one condition can be help us to understand another. So it follows that one of the five key aims in our Research Strategy is to support more studies in rare and ultra-rare neuromuscular conditions.
In an MDUK-funded project, Prof Eric Schirmer and researchers at the University of Edinburgh have developed a way to identify genes that, when altered, cause Emery-Dreifuss muscular dystrophy (EDMD). Like other muscular dystrophies, EDMD is a muscle-wasting condition. It causes muscle contractures (where some muscles become tighter and shorter), muscle weakness and it may also affect the heart. EDMD is an ultra-rare condition that affects only one in 100,000 people.
Using their new sequencing approach, the researchers identified more than 20 new gene mutations, where previously only six had been associated with the condition. This means a quicker diagnosis of EDMD could be possible. Researchers could also adapt the approach to identify genes involved in other rare conditions, including neuromuscular conditions. This would improve our understanding of what causes muscle-wasting conditions, which is key to developing potential treatments.
We all have different genetic make-ups and some variations to our genes can cause muscle-wasting conditions. The causes of rare conditions can be difficult to discover, and that can be unsettling to the people affected. It is important to know the genetic cause of a condition so that we can find out how to treat it.
Dr Kate Adcock, Director of Research and Innovation at Muscular Dystrophy UK, said:
We know that many people with neuromuscular conditions are living without a genetic diagnosis. This research could pave the way to help people get a diagnosis earlier. This will help people to manage their condition thereby helping to provide a better quality of life.
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