Chloe Frost

• MSci Biomedical Sciences
• Investigating how the dysregulation of autophagy, leads to abnormalities in heart development and disease

Heart defects are one of the most common birth defects. The genetic cause of these has been established in some cases but there are still many unanswered questions. In order for cells to maintain their normal function, they often have to recycle or destroy abnormal components within them, this is known as autophagy. We believe that this process is essential for the heart to develop correctly during embryogenesis and altering the levels of autophagy, can affect how those cells behave, consequentially leading to abnormalities in the heart as it develops.  By using mouse models to knock-out the function of one of the genes in the autophagy pathway, we hypothesize that the embryos will develop heart defects and we can start to pinpoint in which of the cell types required for the development of the heart this process is paramount. This work will provide future candidate genes for congenital heart defects.

Funding source: Newcastle University

Project supervisor: Dr Helen Phillips