Unlocking the secrets of asthma: how we discovered the first genetic link

Today it’s a well-established fact that lung conditions can be influenced by our genes. But this wasn’t always the case. Pioneering research funded by Asthma UK, one of the founding organisations of Asthma + Lung UK, discovered the first genetic link to asthma. Dr Samantha Walker, Director of Research and Innovation, tells us all about this ground-breaking research and the importance of its legacy today.

Back in 1989, before most of us even had the internet, research funded by an organisation that has now grown into Asthma + Lung UK discovered one of the first genetic links to a lung condition.  

Before this ground-breaking research was funded and conducted, the full story of why some people had asthma and others didn’t was still a mystery. It was loosely observed that the condition ran in families but other than that, the nature of asthma, how it developed and progressed, was poorly understood. 

Our DNA has the answers 

Understanding how a lung condition behaves is key to unlocking better treatments and care. Without knowing why people’s lungs aren’t working in the way they’re supposed to, it’s very tricky to find a solution that helps people breathe freely and easily.  

That’s where our genes come in. Genes are the building blocks of life, they’re what make us, us. Our genes are inherited from our parents when we’re born, but they’re also edited by life – our experiences and the environment around us. Over time, our genetic code changes. Either in response to the environment, such as inhaled tobacco smoke or exposure to air pollution, or as we age and our body's ability to produce new cells becomes less precise.  

Discovering inheritance 

This research discovered the existence of a genetic marker that means the chance of developing allergic asthma can be inherited from your parents. Seven families with a history of asthma volunteered to have their genetic code examined.  

It was found that your inherited likelihood of developing asthma is linked to part of our DNA on chromosome 11. Overall, 85% of those who carried the DNA marker on chromosome 11 – which is also the chromosome that contains many of the codes that power our sense of smell - were more likely to have symptoms of asthma.  

But most importantly, 20% of those with an inherited genetic marker were also already diagnosed with asthma, showing that our genetics play a crucial role in asthma development. As well as this discovery, this research acknowledged that factors other than inherited genetic markers, such as environmental factors, would also influence asthma development.  

Understanding how to treat asthma today  

Without this ground-breaking research, people with inherited asthma may not have easy access to effective treatments like bronchodilators that work by opening the airways in your lungs to give oxygen more room.  By confirming that asthma can develop if certain genes are inherited, doctors and families know for certain that asthma can be passed down through families – and that it’s not simply that, for example, kids have been exposed to the same environmental asthma triggers that their parents were. This reinforces the idea of keeping a closer eye on children struggling with pre-school wheeze or other allergies if they come from an asthma-prone family.  

Inspiring a new field of asthma research

Importantly, this study also inspired an entirely new field of research into asthma genetics in an effort to improve our understanding of what’s happening in our bodies to cause this condition. This understanding is crucial in developing better ways to improve prevention, treatment and care in asthma. 

This research not only changed how we understand asthma but also helped to establish the idea that lung conditions could be inherited – a concept that was gaining momentum in cystic fibrosis research at the time. Today, researchers across the globe are still exploring how our genetics are linked to our lung health so that better ways of diagnosing, treating and curing lung conditions can be developed – and lives can be changed and saved. 

We’re still carrying out ground-breaking lung health research and you can help! Take our survey on what future research into why people struggle to catch their breath should focus on. The questions you identify as important will help inform the direction of much needed research to find the answers as to why we become breathless.

Dr Samantha Walker

Sam is Director of Research + Innovation at Asthma + Lung UK. She is an experienced researcher with many papers to her name. She has a passionate interest in driving better outcomes for patients with lung diseases through high quality, patient-centred research and innovation

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