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  • 1 July 2020 to 30 June 2021
  • Awards: Pump-priming Awards

Hypertrophic Cardiomyopathy (HCM) is an inherited disease of the heart affecting around 1 in 500 people. So far there are no effective treatments for the underlying causes of the disease. Mutations in patient’s DNA affect the way their hearts contract causing them to grow excessively large and become prone to fatal heart attacks. The mutations are found in the overlapping filaments that bind together and contract in response to calcium. Our project uses mice that contain a mutation in tropomyosin, a component of the muscle filaments. In patients, the mutation causes severe early onset HCM, so therefore provides a good model for our group to test drug treatments. We have generated a number of promising new compounds and will also test new drugs that other groups are bringing to market. We will first look to see whether the mutant mouse has a measurably enlarged heart using non-invasive echocardiography, and thus gain insight into the natural history of the disease. We will then aim to design a method to best deliver our new drugs to the mouse, and test whether treatment is able to rescue any abnormalities detected from our original echo observations.      

 Doppler and light contrast measurements of E180G Mice acquired by Echocardiography.

Image: Doppler and light contrast measurements of E180G Mice acquired by Echocardiography. Credit: Dr Julia Beglov