Technology and time used to be the limiting factors for geneticist Elena Tucker’s research.
Among the first to apply next generation gene sequencing techniques in a medical context, just six years ago Dr Tucker was restricted to collecting DNA from 100 patients with mitochondrial disease, concentrating on just 100 genes. The sequencing work took her to Boston in 2009 because the equipment wasn’t available here.
These days, she no longer needs to travel for her work on mitochondrial diseases – conditions which affect a person’s ability to convert food into energy. Depending on the condition, symptoms can cause muscle weakness, developmental regression, liver dysfunction or seizures.
Now a researcher at the Murdoch Childrens Research Institute, technology has advanced at such a rapid rate that the sequencing can not only be done at her Parkville laboratory, but it can be done in a much shorter timeframe with multiple genes sequenced at once.
‘’It’s amazing, how quickly it’s changing,’’ she said.
On Tuesday Dr Tucker, who discovered four genes linked to mitochondrial diseases and was part of a team that identified another four, was among three scientists to win a UNESCO L’Oreal For Women in Science fellowship.
The annual award for early-career female researchers includes $25,000, which can be spent on things that assist their work – be it childcare or staff to help in the laboratory.
For Dr Tucker, the fellowship will allow her to take her research in a different direction. When she returns from maternity leave, she will focus on sex development disorders for which there are up to 20 associated genes currently identified.
Conditions can be as mild as where the urethra opening is not at the end of the penis (a condition affecting about one in 200 males) to more pronounced defects known as sex reversal. Affecting between one in 3000-5000, the person appears to be one gender, when genetically they are the other.
”Some of those patients don’t even know that they have a disorder of sex development until they try to have children,’’ she said.
She said advances in technology meant gene testing could pick up a disorder, especially ones which mean a patient has a predisposition to another disease such as cancer. The prize money will allow her to sequence about 20 more patients than planned.
Other winners were Monash University evolutionary biologist Vanessa Kellermann and CSIRO’s Cara Doherty.
Dr Kellermann’s work concentrates on native fruit flies – from those found in far north Queensland to their Tasmanian counterparts. The tiny insect has proved invaluable in studying how species adapt to changes in temperature, with the results informing scientists’ understanding of the impact of climate change.
Dr Kellermann said regardless of where the insect came from, the fruit fly tended to have a similar heat tolerance of about 38 degrees.
‘’Tropical species might be at a greater risk,’’ she said. ‘’And tropical areas are often those with some of the greatest biodiversity.’’
For materials scientist Dr Doherty, her work is all about complex crystals which can absorb almost any molecule.
A challenge to make, the crystals have a metal-organic framework and can be tailored by changing their chemistry for potential for use in everything from water filters and batteries to medical sensors.
‘’It’s relatively new,’’ she said. ‘’We’re only now just trying to apply them and I’m trying to build them into devices.’’
The Melbourne-based trio received their fellowships at a dinner on Tuesday evening.