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Genetics of chronic obstructive pulmonary disease (COPD)

Published on July 31, 2023   43 min

A selection of talks on Respiratory Diseases

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0:00
I'm Martin Tobin. I'm Professor of Genetic Epidemiology and Public Health at the University of Leicester and I'll be talking about the genetics of Chronic Obstructive Pulmonary Disease or COPD. So before we start, I'll just outline what I'll cover in this talk. I'll first introduce why we undertake genetics research, what it can tell us. I'll then move on to how we generate evidence about genetic determinants of pulmonary diseases. I'll give some specific examples of recent studies relating to genomics as lung function and COPD and then I'll move on to discussion as to potential future directions.
0:52
So let's begin by describing why we undertake genetic research. In general, we're interested in studying genetic associations with disease or with disease related traits, related to susceptibility or progression of disease for example in order to have evidence that we can have confidence in about disease mechanisms, and that evidence in turn can often be used in addition for prediction to help us make decisions about future diagnostics, potential new therapeutics or therapeutics that can be retargeted or repurposed from other areas, as well as evidence about how to target those treatments and how to prevent disease. So what is it about genetic evidence that's special in some way? Well the issue is that certainly in observational epidemiology, many associations that we observe be they between non-genetic risk factors or biomarker levels and disease are often confounded and subject to reverse causation. Whereas genetic variants are allocated by an essentially random process during gamete formation and this means that genetic associations provide particularly strong evidence that we can have additional confidence in when we're actually making important decisions about what to prioritize, for example for drug development. In fact, Nelson and colleagues have shown that using genetic evidence to support drug targets actually doubles the success rate during drug development. Whilst many of these goals of genetics research do seem rather grand and have come in for some criticism that maybe there is a degree of hype there , we are now actually seeing practical examples coming through. So on the next slide you will see some examples

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Genetics of chronic obstructive pulmonary disease (COPD)

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