Media releases
New era of gene technology is on its way says medal winner
5 May 2009
Gene technology is evolving rapidly, with the next generation of sequencing technology allowing a person’s whole genome to be sequenced in a short period of time and for a relatively low price, says gene hunter Dr Melanie Bahlo, winner of the Academy’s Moran Medal for statistics research.
This new sequencing technology will revolutionise the hunt for genes responsible for disease, and will usher in a new era of personalised genetic testing.
‘The technologies are getting better and better, and we’re getting bigger and bigger data sets. We are able to combine them with a whole bunch of other data now, and that’s really made our job of identifying the genes involved much easier’ she said. ‘What we’re about to get is this ‘next-gen’ sequencing’.
By cleverly using state of the art chip technology Dr Bahlo and her team at the Walter and Eliza Hall Institute of Medical Research in Melbourne mapped a rare disorder called action myclonus renal failure (AMRF) syndrome in the astounding period of three months.
‘We had this amazing result where we mapped this disease in about three months, locating the gene and the mutations…which is just unheard of. Nobody would have guessed that this gene would be the one that’s involved in the disease.’
Dr Bahlo works mainly on Mendelian disorders where a genetic predisposition will definitely lead to the disease, such as in AMRF and some forms of inherited deafness.
Dr Bahlo says that commercial companies are already able to test parts of your genome for several genetic variants that have been linked with disease. However she stresses that most of these tests are not for Mendelian disorders, so a positive result does not necessarily mean an individual will actually develop that disease.
She warns that this type of commercial genetic testing can be misleading and provide unnecessary anxiety.
‘I’m very sceptical and suspicious of these companies that just publish these results to the layman and scare the willies out of them, especially when we’re talking about genetic risks that are pitiful, they really don’t make much of a difference’ she said.
‘They have small risks associated with them and many of us are running around with these alleles and they won’t do anything for us. They might do something…in conjunction with another allele that’s problematic or in conjunction with some kind of environmental exposure, like smoking.’
She says the interaction between genes and environmental factors in disease is not well understood.
‘Its been very, very difficult to figure out exactly how these things work together and that’s a massive challenge for the future.’
She says that making sense of the genetic information from genome sequencing is very difficult for researchers such as herself, let alone the layman, for diseases with complex genetics. This is in contrast to Mendelian disorders where genetic tests can have profound implications with difficult decisions for the individuals involved.
When asked about her experience as a female scientist Dr Bahlo said: ‘I personally have had a very good run. I have been supported by my male colleagues very well and have benefited from mentoring, mainly from men, and have never been exposed to any type of sexism.’
Her message to women in science is: ‘Keep at it, don’t give up, you can do it. You need a strong supportive family and you need to have that passion there. Be realistic, you don’t have to do everything. You need to make some decisions about what’s important and what’s not.’
Dr Bahlo’s involvement in the discovery of several new genes and her development of statistical methodology for genetic mapping have led to her being recognised by the Academy for her outstanding research work. Today she will receive the prestigious Moran Medal for research in statistics and present a talk on her research as part of the Academy’s annual science celebration Science at the Shine Dome.
Event: Presentation of Academy awards and awardee presentations
When: Thursday 7 May 2009
Where: The Shine Dome, Gordon St, Acton, Canberra
Contact: Dr Melanie Bahlo, (03) 9345 2630 on Tuesday 5 May only
Mona Akbari, (02) 6201 9452, 0447 679 612
