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Finding new genes associated with congenital muscular dystrophies and congenital myopathies

Professor Francesco Muntoni at University College London (UCL) will identify new genes associated with congenital muscular dystrophy or congenital myopathy and investigate their function. This will help to speed up the diagnosis of families with these conditions.
Principal Investigator
Professor Francesco Muntoni
University College London
Official title
Understanding the function of novel congenital muscular dystrophies and congenital myopathies genes
Two years
Total cost
(£): £149507
Congenital muscular dystrophy Congenital myopathy

What are the aims of the project?

This project is aiming to uncover the cause of congenital muscular dystrophy or congenital myopathy in 50 families. This is likely to identify new genes associated with these conditions.

Why is this research important?

Despite recent advances in genetics, there are still some families with congenital muscular dystrophy or congenital myopathy who do not have a genetic diagnosis. A genetic diagnosis is important as it allows clinicians to tailor care more effectively and helps families to plan for the future. It may also be a requirement for taking part in clinical trials.

This research will not only help families to get a genetic diagnosis, but will also identify new genes and improve our understanding of what causes congenital muscular dystrophies and myopathies. This is an important starting point for research into potential treatments for these conditions.

How will the outcomes of this research benefit people with congenital muscular dystrophies and myopathies?

The individuals and families taking part in this project will hopefully receive a genetic diagnosis, which is important for the reasons listed above. In addition, the findings from this project will be shared with diagnostic labs so that other families can be quickly and accurately diagnosed in future.

What will the researchers do?

The team at UCL have identified 50 people who have a clinical diagnosis of congenital muscular dystrophy or congenital myopathy but no genetic diagnosis, despite previous tests. In collaboration with the Broad Institute in the US, the researchers will use a technique called next-generation sequencing to scan the patients’ DNA and search for the mutation causing their condition.

If the mutation is found to be within a new gene, the team will study this gene further in zebrafish and cells grown in the laboratory. This will tell us a bit more about what is happening inside the muscle of the patients, and why they have a congenital myopathy or muscular dystrophy.

If the researchers are unable to find a mutation in the patients’ DNA, they will also scan their RNA using a technique called RNA-sequencing. This will give another level of information to help them understand the cause of the condition.

Grant information

Project leader: Professor Francesco Muntoni

Institute: University College London

Condition: Congenital muscular dystrophies and myopathies

Duration: Two years

Total cost (£): £149507

Official title: Understanding the function of novel congenital muscular dystrophies and congenital myopathies genes

Further information

If you would like further details about this research project, please contact the MDUK Research Line at

It is only through your contributions that we can continue to fund the vital work that takes us closer to finding treatments and cures for muscle-wasting conditions. Donate now and help change the lives of thousands of people living with these conditions. Thank you for your support.

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