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We have successfully identified many of the genes and mutations that cause inherited heart disease, but the challenge we now face is trying to understand how those mutations cause the cells to behave abnormally in a way that leads to disease. Once we can understand how something works it may be easier to come up with new treatments to specifically target the problem. These next steps have been difficult for cardiology because the cells we need to work with (heart cells) don’t survive outside the body for more than a day, which limits what we can do. It is now possible to make stem cells and heart cells from patients that live many months allowing us to do much more. An image of the cells we can make is attached, it has been stained to show material important for cardiac contraction. Because these cells come from patients, and keep the same genetic information we can use them to study inherited disease.

PARTICIPATION REQUIREMENTS:

Patients with inherited cardiac conditions of any type will be provided with study information leaflets and offered the opportunity to come to Oxford, to meet the research team and provide a small skin biopsy to begin the process. The sample is obtained with a brief procedure with local anaesthetic that leaves a small wound (~6mm), and ultimately a small scar. We can cover the cost of travel to Oxford.

FUNDING: Wellcome Trust,Oxford.

If you are a researcher and would like to know more about this study, or if you have similar research interests, please contact Dr Matthew Daniels:  matthew.daniels@cardiov.ox.ac.uk

 

Ethics approval: REC reference 11/SC/0023