18 June 2024
A new study is underway which aims to develop and validate a new type of genetic testing for pulmonary fibrosis, to provide earlier detection and improve understanding of the disease.
Funded by Asthma and Lung UK, the study will be led by Dr Deborah Morris-Rosendahl, consultant clinical scientist and head of the Clinical Genetics and Genomics Laboratory at Royal Brompton and Harefield hospitals.
Pulmonary fibrosis & telomeres
Pulmonary fibrosis, also known as interstitial lung disease, is an umbrella term to describe several different diseases that cause scarring of the lungs.
This damage to the lungs causes shortness of breath and a persistent dry cough, which gradually worsens over time, with a life expectancy of only 3-5 years following diagnosis. However, early diagnosis and intervention may improve the prognosis.
Patients with pulmonary fibrosis have been shown to have shorter telomeres than normal and so pulmonary fibrosis now belongs to a growing number of disorders known as telomeropathies.
Telomeres are the tail ends of chromosomes (packages of genes found in every cell of the body) which are made up of repetitive DNA sequences. Telomeres protect the ends of chromosomes, providing stability to the whole genome (all inherited material) and are known to naturally shorten in length with age.
However, some people inherit mutations which affect the length of the telomere causing either short telomere syndrome, which can lead to conditions like bone marrow failure and pulmonary fibrosis, or long telomeres, which make you more susceptible to developing cancers.
Research has shown that patients with pulmonary fibrosis and shortened telomeres have faster disease progression and poorer survival.
Therefore, determining telomere length has the potential to be a diagnostic and prognostic tool in these patients and will guide clinical management and therapy.
However, there is currently no single technique that can accurately, easily and rapidly measure telomere length.
New innovative test
In recent years, researchers at the Clinical Genetics and Genomics Laboratory at Royal Brompton and Harefield hospitals have developed an innovative test for telomere length measurement.
The test has already been tested in a small group of healthy volunteers and patients with pulmonary fibrosis, with promising results.
The funding will allow the test to be trialled in a larger group of patients and their families, with possible introduction into routine genetic testing for lung fibrosis as a companion diagnostic.
Dr Morris-Rosendahl said:
“We are very excited by our initial results on developing this assay, using a completely novel technology. This technology is allowing us to read and measure telomere DNA sequences for the first time ever. We are thrilled that the generous funding from Asthma and Lung UK will enable us to refine and translate the assay into routine genetic testing for patients with pulmonary fibrosis.
“The funding from Asthma and Lung UK will go a long way towards further understanding and improving the diagnosis of pulmonary fibrosis for patients and their families.”
The study is expected to start in July 2024.
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