Asthma Appeal
Study Code:AA
Sample:Publically recruited asthma sufferers and their realtives, plus UPTECH project cohort of school age children
Start Date:Sep.2010
Status:In progress
Contact:Richard Parker
More Info:QIMR only

Asthma symptoms develop when the airways become inflamed as a result of exposure to specific environmental triggers, such as dust, smoke or even exercise. However, not all individuals exposed to the same triggers develop asthma symptoms. The main reason for this is that some individuals are genetically more likely to develop asthma than others, but we know very little about how genes act to cause asthma.

Our main goal is to identify the genes that make some individuals more likely to develop asthma than others. Identifying these genes will potentially give us key insights into the molecular mechanisms that trigger asthma and, in the long term, this information may point to new targets for improved treatments.

Our research will apply the latest state-of-the art technology to compare the DNA of asthma patients against the DNA of healthy individuals. This includes next-generation technologies for DNA sequencing, which will allow us to identify with greater precision the specific genes that may differ between asthmatics and non-asthmatics.

The Asthma Genetics Study is being conducted by a team of researchers at the QIMR Berghofer Medical Research Institute (QIMR). The team is led by Dr Manuel Ferreira, a leader in the field of Asthma Genetics in Australia.

This study is contributing to the largest asthma genetics research program conducted to date in Australia. The institutions that currently participate in this collaboration - entitled the Australian Asthma Genetics Consortium - include QIMR, the University of Queensland, University of Melbourne, Monash University, University of Western Australia, Woolcock Institute of the University of Sydney and the Melbourne Royal Children's Hospital. For more information on this study, please visit

Funding for this research was obtained in 2010 from the National Health and Medical Research Council of Australia.

We believe that many hundreds of genes, each with a very small impact on disease risk, contribute to the onset and severity of asthma. Because these genes have small effects, we need to analyse the DNA of many thousands of patients to be able to accurately identify them amongst the ~20,000 genes that are present in the human genome. For this reason, we would like to further expand our existing QIMR cohort of asthma patients and recruit 1,000 new patients in the next year. We are interested in individuals who have had asthma diagnosed by a doctor at any point in their lifetime.

The genetic analysis and tests of immune function require a 50 ml blood sample to be taken. The collection of this amount of blood is completely safe, but you may experience some slight discomfort, bruising and/or bleeding at the site of needle insertion. We will then extract DNA from your blood and measure genetic information that we would like to test for association with asthma risk, using the latest technologies available for genotyping, sequencing and gene-expression analysis. This information will not be used for any purpose other than to help discover genes that may affect your health. We will also conduct immune function tests that may help refine your asthma status, such as measuring the levels of Immunoglobulin-E and eosinophils in your blood.

If you want further information about the study, please do not hesitate to contact us on our toll-free number 1800 257 179.

If you are over the age of 18 and have had asthma diagnosed by a doctor you can participate by completing a short asthma survey online by clicking HERE or by calling 1800 257 179. We will then contact you to organise blood collection. Children or adolescents under 18 can also participate. In this case, we require a parent to provide consent to participate.