Functional characterization of the human congenital heart disease gene RAPGEF5
Recent technological advances have made it possible to identify changes in our DNA which can cause congenital heart disease. But this still doesn’t always mean we know what the affected genes do during heart development. Dr Karen Liu has previously identified a potential disease-causing gene called RAPGEF5 in a person with congenital heart disease. By studying its function in frogs, she confirmed that the gene is essential for normal heart development. She also discovered its involvement in an important cell communication pathway called ‘Wnt’, where it controls the availability of another molecule – ß-catenin – within the cell’s control centre, the nucleus. In this study, Dr Liu and her team will study the importance of RAPGEF5 for healthy heart development in more depth. She plans to study the effects of the loss of the RAPGEF5 gene in mice, to see how this affects the Wnt communication pathway and the way the heart develops. The results will improve our understanding of the molecular systems that build the heart and the causes of heart defects at birth. This project may also help identify new therapeutic targets to repair damaged adult heart tissue in the future.
Project details
| Grant amount | £83,252 |
|---|---|
| Grant type | Project Grants |
| Application type | Project Grant |
| Start Date | 01 June 2018 |
| Duration | 1 year |
| Reference | PG/17/79/33313 |
| Status | In Progress |
