Asthma Gene Gives Fresh Hope

New, more effective treatments are tipped to flow from the world-first discovery by a group of American and Australian researchers, including those from WAIMR, of a gene that can protect against asthma.

The scientists found two important variant forms of the gene PTGDR; one increases gene expression and asthma risk, and the other can reduce a person's risk of developing the chronic condition by 50%. The discovery represents a significant step forward in understanding the genetic causes of the chronic condition which affects more than two million Australians.

The study's findings, which were published in the world's most prestigious clinical research journal, the New England Journal of Medicine, are unique because they allow researchers to define how these variants work to increase wheezing. Understanding how the gene operates has taught researchers to manipulate the key asthma pathway to benefit those who suffer from the illness. Drugs designed to target this pathway have already entered clinical trials.

The success of the study also highlighted the advantages of working with international organisations. Professor Lyle Palmer, the Australian co-author of the paper outlining the discovery of gene and head of WAIMR's Laboratory for Genetic Epidemiology, is now leading research into the importance of the gene in Australian populations.

Gypsies Help WAIMR Unlock Disease Mysteries

Researching 'founder populations' - those with limited genetic diversity - can provide valuable information in the fight against deadly genetic diseases. Scientists studying these populations can look more easily at genes and identify the causes of diseases. One of the more mysterious founder populations is the Roma, otherwise known as Gypsies.

A genetic study led by WAIMR Professor Luba Kalaydjieva found that common origins of the Roma could be traced back to India, about 1,000 years ago. In studying thirteen genetic mutations common to the group and comparing them to samples from India, the scientists discovered similarities in genetic markers.

The research has already helped the Roma communities minimise the impact of some genetic diseases (including diseases of the peripheral nervous system, childhood blindness, and inborn errors of metabolism) by allowing them to conduct screening, leading to better health for both Gypsies and wider communities. It has also opened up a world of opportunities to find the predisposition to other disorders like epilepsy and heart disease.