Genetic Lung Disease Biobank

The Genetic Lung Disease Biobank is a collection of biological material (such as DNA and blood samples) that can be used to learn more about why, how, and when people can develop lung disease. The biobank is an important piece of research infrastructure at the Irish Centre for Genetic Lung Disease at RCSI Beaumont Hospital. 

Why was the Genetic Lung Disease Biobank set up?

The genetic lung disease biobank started at the Irish Centre for Genetic Lung Disease at RCSI Beaumont Hospital in 2013. This Biobank is helping researchers to find out why some people develop lung disease and others do not. Cigarette smoking is the major risk factor for the development of lung diseases such as chronic obstructive pulmonary disease (COPD). Yet many unanswered questions remain. We cannot explain why some smokers develop lung disease and other smokers do not. We cannot explain why a small number of people who never smoke develop serious lung disease. A condition called alpha-1 antitrypsin (AAT) deficiency is the best understood genetic risk factor for COPD, but few other genetic causes have been found despite decades of research. More information on alpha-1 antitrypsin deficiency can be found here.

We know other genetic factors must be important for the development of lung disease and the search for these factors is ongoing. In Ireland we have the opportunity to perform research of the highest quality due to our small size and unique genetic makeup. Our aim is to build a collection of biological material (DNA and blood samples) from individuals with and without lung disease and from people who smoke and those who have never smoked, known as a 'biobank'.

This biobank is a vital tool for the study of lung disease and is laying the foundations for future research into genetic lung disease. The clinical importance of this biobank is underlined by the fact that up to 300,000 people may be suffering from COPD on the island of Ireland. If we can discover new genetic risk factors involved in the development of lung diseases like COPD, we can start to design new diagnostic tests and treatments for those affected.

Our biobank has already helped to discover new genetic variants that can cause lung disease (Ferrarotti et al, 2014) and to pick apart the precise mechanisms that lead to disease (Reeves et al, 2019). Knowledge gained in our 2019 study changed our understanding of disease risk in people with severe AAT deficiency caused by a premature termination codon. In this study, the novel finding of a shortened form of AAT protein in the blood of an individual presumed to produce no detectable AAT, and the demonstration that this short form AAT retained normal function has opened up a new therapeutic avenue exploring read-through compounds to treat severe AATD caused by premature termination codons.

By taking part in this biobank, you can help us to improve our understanding of lung disease, and ultimately improve diagnosis and treatment. If you would like to learn more about this biobank or perhaps consider taking part, please don't hesitate to get in touch.

Contact

Dr Tomás Carroll, RCSI Education and Research Centre, Beaumont Hospital, Dublin 9. 

References

  1. Identification and characterisation of eight novel SERPINA1 Null mutations. Ferrarotti I, Carroll TP, Ottaviani S, Fra AM, O'Brien G, Molloy K, Corda L, Medicina D, Curran DR, McElvaney NG, Luisetti M. Orphanet J Rare Dis. 2014 Nov 26;9:172. https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0172-y.
  2. Circulating truncated alpha-1 antitrypsin glycoprotein in patient plasma retains anti-inflammatory capacity. Reeves EP, Dunlea DM, McQuillan K, O'Dwyer CA, Carroll TP, Saldova R, Akepati PR, Wormald MR, McElvaney OJ, Shutchaidat V, Henry M, Meleady P, Keenan J, Liberti DC, Kotton DN, Rudd PM, Wilson AA, McElvaney NG. J Immunol. 2019 Apr 15;202(8):2240-2253.