Epigenomic conservation of cardiomyocyte enhancers and its interplay with human genetic variants in myocardial disease
Genetic studies have identified hundreds of small changes in the DNA sequence (known as variants) linked to an increased risk of heart disease. Some of these variants sit within the stretches of DNA sequence that carry the codes for our genes. But most – 95 per cent – occur outside of genes, and we still know very little about how they influence our heart health. Often, genes that are identified as being ‘important’ in health and disease are ‘conserved’ through evolution i.e. other mammals have those genes too. But genetic ‘enhancers’ in heart cells – stretches of DNA that regulate when genes are switched on/off – tend to be highly variable between species. So, if research identifies an enhancer sequence in mice that is crucial for heart disease, there’s no guarantee it’ll be relevant to humans. Now, Dr Villar Lozano will carefully compare DNA between mammal species to pinpoint the conserved sequences for enhancers of heart genes. Then he will see how these behave in cells under the stresses that hearts undergo, to identify which are likely to contribute to heart disease. This work will help to focus attention on genetic variants that are important for our heart health, towards finding ways to prevent heart disease in those at higher risk due to their DNA code.
Project details
| Grant amount | £504,758 |
|---|---|
| Grant type | Fellowships |
| Application type | Intermediate Basic Science Research Fellowship |
| Start Date | 01 February 2019 |
| Duration | 3 years |
| Reference | FS/18/39/33684 |
| Status | In Progress |
