December 10, 2020
Hi! My name is Anna Duckworth and I’m a part-time PhD student at the University of Exeter, having recently joined the field of biomedical research from a career in other industries. I am driven in my work by a strong desire to make a positive lasting difference to pulmonary fibrosis (PF) patients and their families, since I lost both my mother and grandfather to it. I am particularly interested in exploring what causes this mysterious disease, with a view to treating it at the source and preventing onset in those at risk. My ultimate aim is to help find a cure so that patients and their families can be rid of it for good.
Respiratory research
I work closely with our respiratory research lead at the university, Dr Chris Scotton and our NHS interstitial lung disease (ILD) consultant, Dr Michael Gibbons, together with our genetics expert for this work, Dr Jess Tyrrell. I also have strong links with the rest of our growing ILD team in Exeter. Our key external collaborators for our recently published work included Professor Louise Wain and APF Research Fellow, Dr Richard Allen from the University of Leicester and Dr Michael Cho from the US. IPF patient and APF Trustee Howard Almond was also involved.
It’s often hard to tease apart what causes what in disease but in Exeter University I was lucky to discover experts in a statistical method that uses big data and subtle changes in the genetic code affecting a particular trait or inherited feature to explore causality. Most cells in the body contain DNA strands in the cell nucleus with protective ends called telomeres that get shorter with age. I had a hunch from reading the academic literature that premature shortening of these telomeres might play an important role in causing PF. We were able to explore this idea using data from the UK Biobank and replicating our results in patient data from Europe and the US.
Finding evidence of a cause for a disease that is known internationally as ‘idiopathic’ (i.e. ‘of no known cause’) is good news and we recently published our work in The Lancet Respiratory Medicine (1).
The results suggested that prematurely short telomeres play a causal role in people getting IPF and this positive result contrasts strongly with that for another age-related lung disease COPD (chronic obstructive pulmonary disease), where no evidence of a causal link was seen.
We don’t know what proportion of PF patients have short telomeres yet but recent reports suggest that it could be around half, so therapies and treatments that addresses this would make a huge difference to the PF community. Ultimately, having found what is looking like a major cause of disease, our focus is now on how to treat it and I’m even more excited about that!”
Reference
1. Duckworth A, Gibbons MA, Allen RJ, Almond H, Beaumont RN, Wood AR, et al. Telomere length and risk of idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease: a mendelian randomisation study. The Lancet Respiratory Medicine. 2020. https://doi.org/10.1016/S2213-2600(20)30364-7
Find out more:
Dr Richard Allen delivered a webinar on the genetics of IPF. He answered questions from the audience after the live discussion, where he also talked about the role of telomeres in IPF.