Congenital heart defects (CHD) are the leading cause of morbidity and mortality from birth defects. Genetic causes underlie the majority of CHD cases, yet specific genes associated with cardiac malformations are largely unknown1-4.. Most CHD cases are complex, displaying multiple cardiac defects at the same time5. An example is Tetralogy of Fallot (TOF), which is the most common cyanotic CHD, characterised by four cardiac defects: ventricular septal defect (VSD), malposition of the aorta, stenosis of the pulmonary trunk and right ventricular hypertrophy. The anatomical abnormalities present in many cases of CHD, especially those of the most complicated cases, often include laterality defects, where the left and right sides of the heart are not correctly specified and distinguished from each other. A key cellular organelle required for the establishment of the left-right identity of internal organs is cilia. The alteration of cilia function during embryonic development can impair the acquisition of left-right identity in the developing organisms, in a mechanism that is conserved through evolution.
In this project we seek to identify links between genes that encode proteins required for cilia formation and function and human congenital heart defects. We will use model organism studies in mouse and zebrafish to examine cilia function during left-right axis formation. We will then use DNA sequence databases to determine if CHD patients have deleterious variants in cilia related genes, and test hypotheses about how these variants disrupt gene function in model organisms if relevant. Overall these experiments will expand our knowledge of the role of cilia function in cardiac development.
Eligibility
Applicants must have obtained or be about to obtain a First or Upper Second class UK honours degree, or the equivalent qualifications gained outside the UK, in an appropriate area of science, engineering or technology.
Before you Apply
Applicants must make direct contact with preferred University of Manchester supervisors before applying. It is your responsibility to make arrangements to meet with potential supervisors, prior to submitting a formal online application.
How To Apply
To be considered for this project you MUST submit a formal online application form - full details on eligibility how to apply can be found on our website https://www.bmh.manchester.ac.uk/study/research/astar/#apply On the online application form select A*STAR PhD Programme.
Your application form must be accompanied by a number of supporting documents by the advertised deadlines. Without all the required documents submitted at the time of application, your application will not be processed and we cannot accept responsibility for late or missed deadlines. Incomplete applications will not be considered. If you have any queries regarding making an application please contact our admissions team [Email Address Removed]
Equality, Diversity and Inclusion
Equality, diversity and inclusion is fundamental to the success of The University of Manchester, and is at the heart of all of our activities. The full Equality, diversity and inclusion statement can be found on the website https://www.bmh.manchester.ac.uk/study/research/apply/equality-diversity-inclusion/
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