PhD Studentship: PhD Opportunity Title Understanding Predisposition to Pulmonary Fibrosis and its Relationship with Genetics, Telomere Length and Sex Hormones

Project description:

Pulmonary fibrosis (PF) is a condition which causes scarring in the lungs, leading to breathlessness, cough, fatigue and early death, with worse survival rates than many cancers. In the UK alone, PF causes 1% of deaths, and is increasing in prevalence. Approximately 20% of PF cases are familial with more than one affected family member. Rare genetic variants in 25 genes have been associated with PF, mostly discovered in familial cases. However, 75-80% of familial cases remain un-explained and the ability to offer risk prediction to unaffected family members where there is a diagnosis is currently limited. In this project you will work with large-scale whole-genome sequencing datasets, to identify novel genetic risk factors for PF.

The majority of known genetic causes relate to ‘premature aging’, represented by alterations in the caps of a person’s chromosomes, known as the telomeres. This seems to go hand-in-hand with a reduction in the levels of sex hormones such as testosterone and oestrogen. In this study, you will investigate the role that hormone levels and telomere length play in predisposing to risk of PF in carriers of genetic variants.

You will have the opportunity to work alongside experts in large-scale health data, respiratory health and reproductive health in two large multi-disciplinary teams working at the cutting-edge of health research.

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