Rare lung diseases are a leading cause of death in Ireland, with higher prevalence of these conditions compared to other European countries. Yet, despite the numbers of people who suffer from these conditions, we still have limited treatments for many lung complaints.
Part of the solution lies in finding better ways of identifying new medications that are effective and non-toxic.
Respiratory diseases can affect the upper or lower respiratory tract and even lead to complications in other organs, such as the liver. Current treatments available to many patients with respiratory diseases offer only limited symptom relief and only slow the progression of the disease rather than curing it.
One of the key challenges in respiratory research is the lack of effective models that can replicate the human disease. Traditional models often fail to capture the individual genetic and environmental background of patients, and animal models are costly and may fail to identify side effects that real patients get.
Induced pluripotent stem cells
So, what can we do to better understand these diseases and how they work?
In the last 10 years, the use of a new approach in disease modelling has emerged, called induced pluripotent stem cells (iPSCs). These stem cells, reprogrammed from a patient’s skin or blood sample, can be used to grow the cell types known to play a role in diseases in the laboratory, such as lung cells, allowing researchers to model the disease in a 'dish'.
RCSI has opened Ireland’s first centre for generating iPSCs – the Patient Stem Cell Discovery Core. These cells are a powerful tool to discover new treatments and personalised therapies for respiratory diseases such as cystic fibrosis, pulmonary fibrosis, and chronic obstructive pulmonary disease (COPD). This facility offers researchers within Ireland and Europe the opportunity to use these cells for rare lung disease modelling.
These models can be used to investigate how specific genetic mutations contribute to disease and how different environmental factors, such as air pollution or smoking, drive the progression of disease. In addition, cells made from iPSCs can be used for high-throughput screening, a way of testing a high number of samples very quickly, which accelerates the discovery of new diagnostic markers and also new treatments.
Effective interventions
Generating iPSCs is very technically challenging and time-consuming. Therefore, many researchers rely on generic iPSCs that might not be tailored for the intended research.
RCSI’s new Patient Stem Cell Discovery Core fills that gap, offering a source of high-quality, disease-relevant stem cell models for researchers in Ireland and Europe by generating iPSCs from patient samples.
Researchers at RCSI are currently investigating different aspects of cystic fibrosis and idiopathic pulmonary fibrosis using cells made from iPSCs to deepen our understanding of these conditions and develop more effective, personalised interventions, ultimately transforming how they are treated.
RCSI is committed to achieving a better and more sustainable future through the UN Sustainable Development Goals.
