End of project summary
Limb girdle muscular dystrophy (LGMD) is caused by a change in a gene. However, a lot of people with LGMD do not know which of their genes have changed. This means that they do not have a confirmed genetic diagnosis. This highlights the need to continue improving genetic testing approaches and gene identification efforts.
As part of this project, Dr Jamshidi and colleagues investigated a small group of families with a clinical diagnosis of LGMD, but with unknown genetic causes.
By re-analysing the existing data and carrying out additional gene sequencing, Dr Jamshidi and colleagues were able to identify LGMD-associated gene changes (also known as genetic variants) that have previously been missed.
The genetic data generated in this project will allow for more accurate determination how rare or common a genetic variant is, and therefore how likely is it to be associated with LGMD.
The results of this study highlight the importance and need to identify and accurately annotate rare LGMD-causing genetic changes.
What are the aims of the project?
This project aims to uncover the cause of LGMD in 15 families. This is likely to identify new genes associated with the condition.
Why is this research important?
Despite recent advances in genetics, there are still some families with LGMD 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 LGMD. This is an important starting point for research into potential treatments.
How will the outcomes of this research benefit people with LGMD?
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 published and shared with scientists and clinicians, so that other families can be quickly and accurately diagnosed in future.
What will the researchers do?
The team at St George’s University of London have identified 15 families who have a clinical diagnosis of LGMD but no genetic diagnosis, despite previous tests. The researchers will re-analyse previously collected genetic data from these families using the latest computational techniques. The hope is that these techniques will now be advanced enough to identify the mutation causing the condition.
If this is unsuccessful in any families, the researchers will carry out whole genome sequencing. This powerful technique can scan all of someone’s DNA, in search of the mutation causing the condition.
For further information
If you would like further details about this research project, please contact the MDUK Research Line on 02078034813 or email research@musculardystrophyuk.org
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