19 June 2025
Congratulations to Dr Mathieu Bottier, research associate at Royal Brompton and Harefield hospitals, who has been awarded a research fellowship to lead pioneering work that could transform the diagnosis and treatment of Primary Ciliary Dyskinesia (PCD).
Funded by the Medical Research Foundation, the Artificial Intelligence (AI) Diagnostics Fellowship allows mid-career researchers to make the transition to independent researcher and increase understanding of the use of AI methods in diagnosing heart and lung diseases. Dr Bottier is the first person at our hospitals to be awarded this fellowship, with only three fellowships were awarded nationally in the last funding round.
Dr Bottier’s project aims to tackle the early and accurate diagnosis of PCD, a genetic disorder that affects the tiny hair-like structures in the lungs known as cilia. These structures are essential for clearing mucus and harmful particles from the airways. In individuals with PCD, the cilia do not function properly, so patients suffer from chronic infections, breathing difficulties, and long-term lung damage.
The condition often begins in early childhood and can require hours of daily treatment, placing a heavy burden on patients and their families. However, despite its serious impact, PCD remains vastly underdiagnosed, partly due to the complexity of the tests needed to confirm it. Experts estimate that only a fraction of those affected, about 1 in 7,500 people, are correctly diagnosed.
Now, thanks to the newly awarded fellowship, Dr Bottier will lead a cutting-edge research programme using artificial intelligence (AI) to improve how PCD is diagnosed and monitored.
On a project led by Professor Claire Hogg, paediatric respiratory consultant, Dr Bottier and the team have already developed an AI tool that analyses electron microscope images of cilia and is outperforming experts in challenging cases. The plan is to expand its use to other PCD specialist centers, offering new hope for faster, more accurate diagnoses.
The next stage will involve training an AI model to assess how cilia beat using high-speed video footage using parameters like cilia speed and the distance travelled by the cilium tip for objective, unbiased analysis.
A third AI tool will also be developed to help analyse fluorescent images of ciliary proteins, with the aim to speed up the diagnostic process even further.
If successful, this programme of work could ultimately reduce the disease burden for patients worldwide by bringing improved diagnostics capabilities as well as allowing patients to access to clinical trials and potentially life-changing therapies.
Dr Bottier further explained the importance of this research:
“PCD is a rare and complex respiratory disease that often goes unrecognised for years. Raising awareness and improving early diagnosis is crucial to ensuring better outcomes for patients. This fellowship is a unique opportunity to harness the power of artificial intelligence to support clinical teams and reduce diagnostic barriers.
“I’m deeply honoured to receive this support from the Medical Research Foundation and look forward to continuing this work in close collaboration with the BEAT-PCD European network, which plays a vital role in uniting clinicians, researchers, and patients across borders.”
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