A new clinic for people still waiting for a genetic diagnosis in Northern Ireland

Most muscle wasting and weakening conditions are caused by changes in our genes. Genes are like instructions that tell our bodies how to work. They help make proteins, which do important jobs in our cells. If the genes change, the proteins might not work properly, which can lead to muscle damage, wasting, and weakness.

Genetic testing helps doctors find out if someone has changes in their genes. New technology means scientists can now find more complicated changes than before. But some people with muscle wasting conditions still don’t know which gene changes cause their condition and don’t have a definitive diagnosis.

Without a diagnosis, people might not know how their condition will change, if their children could be affected, or which treatments might help. They might also miss out on research studies or new treatments made for specific gene changes.

In Northern Ireland, it can be harder to get advanced genetic testing than in other parts of the UK. There also isn’t targeted support for people who don’t yet have a genetic diagnosis.

This project will set 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 will bring together experts in genetic testing, diagnosis, and muscle wasting conditions. It will also be supported by a centre in Newcastle that has lots of experience in this area.

The project will start small to see how well the new clinic works and will be improved based on what they learn. The team will look at 40 people’s genetic data using new methods to find changes that might have been missed previously. If they still can’t find the cause for some people, they’ll use a more detailed test to look even more closely at their genes.

By creating a specialist clinic, people who don’t yet have a diagnosis will get better support and care. In the long term, it could help more people in Northern Ireland find out the genetic cause of their muscle wasting condition. It will also, finally give them answers and help doctors to give them the best treatment and care.

The team hopes the results from this project, and feedback from people who took part, will help the clinic become a permanent NHS service.

The project could also help start a list, called a registry, that collects useful information from people with muscle wasting conditions. By collecting genetic data and working with centres that already have experience in gathering this kind of information, the team can show that building a registry is possible. This evidence could help secure funding to develop the registry in the future. A resource like this would help doctors and researchers understand these conditions better, improve care, and support future research.