Transforming the lives of individuals with pulmonary fibrosis
Professor Tamera Corte
Researchers at the University of Sydney are leading a national collaboration working to unravel the genetic links to lung diseases, and how to improve early diagnosis and treatment, with the help of artificial intelligence (AI).
Pulmonary fibrosis is a progressive lung disease where the lung tissue becomes scarred and thickened, making it difficult for the lungs to function properly.
It often presents with symptoms such as shortness of breath, cough, unexplained weight loss and fatigue.
Thousands of new cases of pulmonary fibrosis are diagnosed in Australia every year, and this number is increasing five percent annually.
Individuals with the most common and severe type of pulmonary fibrosis face a challenging prognosis, with an average survival of just two to five years from diagnosis.1
Professor Tamera Corte from the Faculty of Medicine and Health at the University of Sydney has dedicated her career to understanding the complexities of pulmonary fibrosis.
As Director of Interstitial Lung Disease at Royal Prince Alfred Hospital, Chief Investigator at the Centre of Research Excellence in Pulmonary Fibrosis and Chair of the Australasian Interstitial Lung Disease Registry, Tamera is leading comprehensive and groundbreaking research and pioneering innovative methods for diagnosing and treating pulmonary fibrosis in Australia.
This includes advancing our understanding of genetic risk factors and harnessing the power of AI.
Genetic insights
Research by Professor Corte and an Australian team has identified new genes involved in pulmonary fibrosis, and early disease in family members who thought they were unaffected.
“What makes this research unique is that it is the only familial research on pulmonary fibrosis in Australia,” says Professor Corte.
“Most genetic research in pulmonary fibrosis is population-based, not based on families. This approach is better in identifying causative genes in rare diseases.”
The study of 50 families with more than one member with pulmonary fibrosis, found that more than 30 percent of unaffected family members had early signs of fibrosis.
This has important implications for family members who can be screened regularly for pulmonary fibrosis and be diligent in avoiding other risk factors for the disease.
“This study has identified 9 new genetic variants in Australian families with pulmonary fibrosis, and we are now working on understanding the impact of these genetic changes and whether they can be specifically targeted with gene therapies,” says Professor Corte.
Leveraging artificial intelligence
Professor Tamera Corte is the Director of Interstitial Lung Disease at Royal Prince Alfred Hospital. Image credit: Sydney Local Health District.
New artificial intelligence technology is also being used to improve the diagnosis of pulmonary fibrosis and more accurately predict disease progression for individual patients.
The AI program SOFIA (Systematic Objective Fibrotic Imaging Analysis Algorithm) analyses high-resolution chest CT scans crucial for diagnosing pulmonary fibrosis. The program can identify small patterns that are invisible to the human eye, which could help with improved diagnosis and prognostication.2
Professor Corte and her team of collaborators, including Professor Simon Walsh from the Imperial College London, utilised hundreds of Australian patients’ scans to validate the deep learning algorithm.
“The AI algorithm is significantly better at predicting the outcome for an individual patient at 12 months than evaluation by an expert radiologist or diagnostic guidelines,” says Professor Corte.
“As the disease course in pulmonary fibrosis is very varied between individuals, it would be extremely useful to have a prognostic marker available for an individual patient when they are first diagnosed.
“This could help physicians and patients make joint decisions on when to start and stop treatments, when to refer to lung transplant or palliative care, therefore personalising the treatment journey.”
Driving progress
The Centre of Research Excellence in Pulmonary Fibrosis (CRE-PF) has been pivotal in advancing our understanding of the disease, fostering cutting-edge research, and shaping improved strategies for diagnosis, treatment, and patient care.
“The CRE-PF is an extraordinary nationwide collaboration of dedicated clinical and discovery science researchers united in a common mission to enhance and extend the lives of people living with pulmonary fibrosis,” says Professor Corte.
“It plays an integral role in groundbreaking pulmonary fibrosis research through its national platforms, including the Australasian Interstitial Lung Disease registry and biobank, and through patient engagement, translating research findings, and educating patients, clinicians and researchers across the nation.”
If you would like to support the work of the CRE-PF, you can make a donation through the University of Sydney.
