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 research@musculardystrophyuk.org
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