The analysis of genetic and environmental contributions to the risk of congenital heart disease
Fact file
| Duration |
Three to four years full-time |
|---|
| Eligibility |
Self-funded; Home, EU or International Students |
|---|
| Supervisor(s) |
Dr Siobhan Loughna
Professor David Brook
|
|---|
| Application deadline |
No deadline |
|---|
About the project
According to BHF statistics 12 babies are born with heart defects in the UK each day and more cases are diagnosed in later life. 1-2 per cent of the population may be affected. To identify and characterise genes that contribute to heart defects we have been building a road map of congenital heart disease (CHD). Recently we have studied 1891 patients and reported 3 novel CHD genes: CDK13, CHD4 and PRKD1. We now aim to examine the diversity of heart morphology in mouse lines with mutations in these genes. We also aim to study the effect of altered environmental factors in these mouse lines to determine if they affect the risk of a CHD forming. In this way, a greater understanding of CHD risk stratification from both environmental and genetic risk factors will be provided.
Our labs are adjacent, facilitating close collaboration. There is office space within both of the labs footprints. We have a number of PhD, technical and postdoctoral staff. We use a range of cell and molecular biology techniques, including mouse handling, embryo dissection, phenotypic analysis, high resolution episcopic microscopy (HREM), 3D reconstructions and the use of imaging software e.g Osirix, PCR, DNA/RNA/protein isolation, cloning, in situ hybridisation, westerns. Equipment such as steromicroscopes and the HREM kit that will be used in this project are also within the lab. Training will be provided in all areas, including a Home Office course on mouse handling.
Funding notes
This project is available to self-funded students. Home applicants should contact the supervisor to determine the current funding status for this project. EU applicants should visit the Graduate School webpages for information on specific EU scholarships. International applicants should visit our International Research Scholarships page for information regarding fees and funding at the University.
References
- Geyer et al. 2017. Morphology, topology and dimensions of the heart and arteries of genetically normal and mutant mouse embryos at stages S21–S23. J of Anat. Oct;231(4):600-614
- England J et al. 2017. Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. Journal of Molecular and Cellular Cardiology 106, 1-13
- Sifrim A et al. 2016. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics Sep;48(9):1060-5
- Ghosh TK et al. 2014. Studies of Genes Involved in Congenital Heart Disease. J. Cardiovasc. Dev. Dis. 1(1), 134-145
See this project on FindaPhD
The analysis of genetic and environmental contributions to the risk of congenital heart disease