Personalised lung health risk scores enabled by UK-led genome study | Science | News

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Individuals may soon be given personalised risk scores for lung health thanks to the results of a new study into the genetic underpinnings of lung function. The study — the largest and most diverse of its kind — was undertaken by researchers from the Universities of Leicester and Nottingham. The findings, the researchers said, could pave the way for new treatments for conditions like asthma and chronic obstructive pulmonary disease (COPD). Chronic respiratory diseases such as COPD are the third leading cause of deaths worldwide.

In their study, the researchers analysed genomic data from a whopping 580,869 people from across the globe, comparing such with measures of lung function — that is, how well they move air in and out of the body.

In conditions such as asthma and COPD, this process is made more difficult by the narrowing of the airways.

By comparing genomic data with that on lung function, the team were able to identify 559 new genes linked to lung health with greater confidence than ever before.

It is these genes which encode the proteins involved in lung functions that doctors can develop medicines to target to prevent or treat lung diseases.

The investigation was led by genetic epidemiologist Professor Martin Tobin of the University of Leicester.

He said: “This is a big leap in terms of the size and the ethnic diversity of the populations that we’ve been able to study before and it’s a huge step in the number of associated genetic variants that we’ve discovered.

“Our genetic research findings can be used to generate individual risk scores that could personalise medicine.

“At this stage, the risk score we developed form important tools for further research but in the future these could help to select which drugs might be most effective for individual patients, and which drugs should be avoided.

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Paper co-author and molecular medicine expert Professor Ian Hall of the University of Nottingham said: “Inclusion of people from diverse backgrounds in genetics research is important.”

Only such diverse studies, he explained, can “make sure that all groups of people benefit from the advances in prevention and treatment that such can bring.

“At present, though, the majority of people in genetic studies are from white backgrounds.

“In the future, we urgently need more studies in different ethnic groups to provide the necessary sample sizes to really take the field forward.

The findings come as the researchers move to begin a multi-disciplinary project which has received £8.8million in funding from the Wellcome Trust to identify drug targets and aid the developments of new treatments for lung conditions.

Prof. Tobin added: “Bringing teams from the Universities of Leicester, Nottingham and Cambridge with expertise spanning genomics, data science and cell biology into a single project mens that we can speed up the steps leading to new treatments.

“This Wellcome funding also means that we will be able to improve the diversity of genomic studies in the UK […] and boost genomic studies of lung disease in under-served populations worldwide.”

The full findings of the study were published in the journal Nature Genetics.

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