Rare genetic conditions remain poorly characterised resulting in limited therapeutic options. One such rare genetic condition is loss of TEX12, a recently discovered protein critical for fertility. Consequently, loss of TEX12, through mutations or gene deletion, is a rare event previously demonstrated to cause infertility in both sexes. As TEX12 was reported to be exclusively meiotic and absent in somatic tissues, the general fitness of TEX12 loss in patients has not been previously investigated and infertility was assumed to be the only pathology. We have discovered that loss of TEX12 leads to female obesity and cerebellar hyperplasia in both sexes furthermore, we found that TEX12 plays a role in cancer development and progression and lack of TEX12 affects cancer predisposition. Consequently, following our discoveries, you will comprehensively investigate the consequences of TEX12 loss in patients. This studentship therefore offers a novel and unique translational model to study a rare genetic condition with implications for cancer biology in combination with clinical analysis. Our laboratories have identified a novel functional relationship between a TEX12 and cilia formation resulting in this project being at the forefront of research into this novel disease which will help determine the role of TEX12 as a ciliopathy related gene.
This interdisciplinary project will involve a unique breadth of training across two laboratories (see links below) with complementary approaches utilising our world-class facilities including cell biology, proteomics (https://www.liverpool.ac.uk/pfg/), genetics (https://www.liverpool.ac.uk/genomic-research/) and imaging techniques (https://cci.liv.ac.uk/); all providing training in quantitative skills. This project is suited to students who need flexible working arrangements. We invite, welcome and champion applications from minority backgrounds. During this interdisciplinary project you will develop a unique combination of skills in pathology, cell biology, big data, proteomics, genetic and imaging techniques. A broad range of inter-disciplinary approaches (CRISPR-Cas9 genome editing, DNA pull-downs followed by mass spectroscopy and cell-based models to understand disease pathology) will develop diverse technical expertise. Furthermore, this multi-disciplinary training will give you a broad range of skills allowing a wide choice of career options, both within and outside of academia, after the PhD.
In addition, you will join our lab https://www.mcclurglab.com/ at the Molecular Physiology and Cell Signalling Department (https://www.liverpool.ac.uk/translational-medicine/departmentsandgroups/cellular-and-molecular-physiology/about/) as a member of a supportive team of PhD and Post-Doctoral scientists with similar interests, participating regularly in broad ranging group meetings and scientific symposia.
Primary Supervisor -
Secondary supervisor –
Informal enquiries may be made to Dr Urszula McClurg: [Email Address Removed]
Benefits of being in the DiMeN DTP:
This project is part of the Discovery Medicine North Doctoral Training Partnership (DiMeN DTP), a diverse community of PhD students across the North of England researching the major health problems facing the world today. Our partner institutions (Universities of Leeds, Liverpool, Newcastle, York and Sheffield) are internationally recognised as centres of research excellence and can offer you access to state-of the-art facilities to deliver high impact research.
We are very proud of our student-centred ethos and committed to supporting you throughout your PhD. As part of the DTP, we offer bespoke training in key skills sought after in early career researchers, as well as opportunities to broaden your career horizons in a range of non-academic sectors.
Being funded by the MRC means you can access additional funding for research placements, international training opportunities or internships in science policy, science communication and beyond. See how our current DiMeN students have benefited from this funding here: http://www.dimen.org.uk/overview/student-profiles/flexible-supplement-awards
Further information on the programme and how to apply can be found on our website: