By identifying the changes in a person’s DNA that cause the disease, we can find out why people with the same condition are affected differently. This will mean more people receive a genetic diagnosis – giving them answers and helping us all understand these conditions better.
Understanding Ullrich muscular dystrophy
Our researchers revealed how a common genetic change in the COL6A1 gene causes Ullrich muscular dystrophy. Then, they developed ‘molecular patches’ which could correct the problems this change causes.
One day, this could lead to treatments for Ullrich muscular dystrophy, to stop the muscle from getting weaker.
Discovering genes behind the conditions
As well as the genetic change above, our scientists have identified many other genes and changes, which cause muscle wasting conditions. These include congenital muscular dystrophies, limb girdle muscular dystrophies, Charcot-Marie-Tooth disease, and myotonic dystrophy type 1.
Some of these genes and changes are now included in diagnostic tests, and others are the targets of potential new treatments.
From molecules to muscles, our scientists are understanding in detail how these conditions develop. Uncovering new opportunities for treatments that could change lives.
Revealing the causes of FSHD
Our scientists studying facioscapulohumeral muscular dystrophy (FSHD) have revealed how the protein DUX4 blocks muscle production and repair. They also identified a new way to measure how severe a person’s disease is. This could help doctors monitor how a person’s condition changes over time, measure how well the body responds to treatments, and help scientists develop new FSHD therapies.
New discoveries for INPP5K-related dystrophy
Our researchers have discovered a new structure inside cells that plays a key role in INPP5K-related congenital muscular dystrophy. These findings will help scientists develop new treatments.
People with muscle wasting conditions urgently need new treatments. We’re speeding up drug development with two flagship projects – the NorthStar programme, and the MDUK Oxford Neuromuscular Centre. Here’s some examples how.
NorthStar – making steroids the standard treatment for Duchenne muscular dystrophy
The NorthStar study follows 1,500 boys and men with Duchenne muscular dystrophy (DMD). Data from the NorthStar study was instrumental in convincing doctors across the country to use steroids to treat the condition.
This has had a huge impact. Children with DMD are now walking for over three years longer than in the previous decade. Steroids have also meant boys with DMD now live for longer without needing breathing support or developing heart problems.
Learn more about the NorthStar programme and its other achievements so far.
Oxford Neuromuscular Centre – launching new clinical trials
We created the Oxford Neuromuscular Centre to boost research into new treatments for muscle wasting and weakening conditions.
For example, our scientists at the Centre have created a ‘molecular patch’, which is now being tested with boys with DMD. This is just one of 20 new clinical trials that have been launched at the MDUK Oxford Neuromuscular Centre.
Find out more about the progress being made at the MDUK Oxford Neuromuscular Centre.
We listen to people living with muscle wasting conditions. Put their experiences at the heart of research andhelp them live their life to the fullest.
Improving standards of care for men with Duchenne muscular dystrophy
Through the NorthStar programme, our researchers created the first-ever standards of care guidelines for adults with Duchenne muscular dystrophy. These guidelines will improve the care and support offered to men with DMD across the UK.
Helping people manage their own healthcare
Our researchers developed and tested a self-management support programme called Neuromuscular Bridges. This will give people with muscle wasting conditions the tools and confidence to manage their own health. To feel good, mentally and physically.
Improving care for people with spinal muscular atrophy
We helped to set up SMA Reach, a research network dedicated to improving treatment and care for spinal muscular atrophy (SMA). One of the main aims of SMA Reach is to create new standards of care for people with SMA, to improve their daily life and general wellbeing.
