The 100,000 Genomes Project is a flagship project of the Department of Health that is working with universities and hospitals across the UK to understand the genetics of people with rare conditions. It aims to create a health service that uses knowledge about people’s genes to more accurately understand, diagnose and develop treatments for conditions where that is currently not possible. Being part of the 100,000 Genomes Project could help spur the next wave of research to tackle severe asthma.
Why is Asthma UK fighting to include severe asthma in the 100,000 Genomes project?
We know that there are several different types of asthma but we are a long way from understanding the causes of these different types let alone having the tools for a GP to quickly spot these differences during diagnosis and then prescribe treatments tailored for that type.
The 100,000 Genomes Project focuses on rare conditions where we do not know enough about the underlying genetic cause. The current lack of scientific understanding means that many people may respond poorly to conventional treatments, and for people with some kinds of severe asthma there may be no effective treatments available. Working to include a specific type of severe asthma in this project could open the door to understanding the differences between people’s asthmas at a genetic level. This could transform how we diagnose different forms of asthma, develop treatments and ensure that people receive the right treatments for their type of asthma.
The project has been backed with over £200 million to buy state-of-the-art genome sequencing equipment and to analyse the vast amounts of data produced. And the project is already having results, pinpointing the underlying genetic changes that cause debilitating conditions.
Watch this video to find out more about how the 100,000 Genomes Project works. Its aim is to sequence 100,000 genomes from 70,000 people making it the largest study of genomes in the world. This is a massive undertaking and will provide masses of data to drive medical research - the raw data from one genome alone is about 200Gb – equivalent to 4000 professional-grade photos!
What is Asthma UK working to achieve?
- Understanding a key form of severe asthma
There is a strong case to investigate the link between severe eczema and severe asthma, with the genetic correlation between these conditions indicating shared causes. We want to include this form of asthma in the 100,000 Genomes Project to better understand its causes and potentially unlock better diagnosis and research into new treatments for it as a result.
- Kick-starting further research into other forms of asthma
If understanding the different types of asthmas at a genetic level proves to be a fruitful way to increase the accuracy of diagnosis, and opens up new ways of thinking about how to develop effective treatments, it could start a whole new wave of asthma research.
What is Asthma UK doing to make this happen?
We are currently working with leading respiratory scientists and clinicians to apply for the inclusion of this specific type of asthma in the 100,000 Genomes Project.
If we are successful, this could be the beginning of a new level of understanding asthma, leading to better diagnostic tools and new treatments.