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The analysis of genetic and environmental contributions to the risk of congenital heart disease

School of Life Sciences

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.

The University of Nottingham is one of the world’s most respected research-intensive universities, ranked 8th in the UK for research power (REF 2014). Students studying in the School of Life Sciences will have the opportunity to thrive in a vibrant, multidisciplinary environment, with expert supervision from leaders in their field, state-of-the-art facilities and strong links with industry. Students are closely monitored in terms of their personal and professional progression throughout their study period and are assigned academic mentors in addition to their supervisory team. The School provides structured training as a fundamental part of postgraduate personal development and our training programme enables students to develop skills across the four domains of the Vitae Researcher Development Framework (RDF). During their studies, students will also have the opportunity to attend and present at conferences around the world. The School puts strong emphasis on the promotion of postgraduate research with a 2-day annual PhD research symposium attended by all students, plus academic staff and invited speakers.

Funding Notes

3/4 years; FT: Home applicants should contact the supervisor to determine the current funding status for this project. EU applicants should visit the Graduate School webpages View Website for information on specific EU scholarships. International applicants should visit our International Research Scholarships page View Website for information regarding fees and funding at the University.


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

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