Dr Elena Tucker, geneticist, Murdoch Childrens Research Institute, Melbourne
Dr Elena Tucker has brought peace of mind to families affected by rare energy disorders. She’s found genes responsible for some of these diseases.
Now, with the support of her 2014 L’Oréal For Women in Science Fellowship, she will look at hundreds of individual genomes to determine the causes of sex-determination disorders.
For the thousands of families affected by these rare disorders Elena’s work provides an understanding of the causes and opens a path to management and to potential treatments one day. And the techniques she’s developing underpin the broader development of personalised medicine.
For her PhD, Elena used high-throughput DNA sequencing to investigate the genetics of mitochondrial disease. Mitochondria are the membranous structures in the cell where food is converted into the energy that powers our bodies. Anything that disables them, such as the mutation of a gene, robs the body of the energy it needs to function. This can lead to symptoms such as seizures, muscle weakness, developmental delays, liver dysfunction, heart failure or blindness.
Elena discovered four genes, and helped in finding an additional four, within which mutations have a direct link to such conditions. This has accounted for a significant proportion of new genetic diagnoses of mitochondrial disease.
Dr Vanessa Kellermann, evolutionary biologist, Monash University, Melbourne
Our planet’s climate is changing. How will bees cope—will they still be able to pollinate our crops? Will dengue and malaria–carrying mosquitoes spread south?
Vanessa Kellermann is working with native fruit fly species from Tasmania to tropical Queensland to find out. She has already demonstrated that tropical flies are more vulnerable to change in the long term. They don’t have the genetic capacity to evolve quickly. Now, with her L’Oréal For Women in Science Fellowship, she will explore how flexible they are in the short term—how individual insects can respond to change during their lifetimes.
“No one sets out to study flies,” she says. But they are perfect for asking basic questions that will allow us to create models of evolution and help people—from farmers to health professionals—plan for change.
When Dr Vanessa Kellermann tells people she studies flies, there’s an almost automatic assumption that she’s working to get rid of them. In fact, it’s quite the reverse. Vanessa would consider her research a success if her flies hung around for many more millions of years, along with most of the other plants and animals on Earth.
Dr Cara Doherty, materials scientist, CSIRO, Melbourne
Cara Doherty is developing new technologies that could transform water filters, batteries and medical sensors, and clean up carbon emissions. And it all comes down to holes and surface area.
She has a vision for a new manufacturing industry for Australia. She works with crystals that are packed with… nothing. They’re highly porous sponges—down to a molecular level—and can be customised to absorb almost any molecule.
These crystals are metal–organic frameworks (MOFs). They can be challenging to make. And it’s also difficult to determine which crystal will be good for which job. But it’s even harder to deploy the crystals—to put them in the right place to do useful work.
Cara uses antimatter (positrons) and synchrotron light (X-rays) to measure the crystals and their properties. Then she uses her patented technique to imprint useful shapes for devices.
With the help of her L’Oréal For Women in Science Fellowship she will investigate how to take the next step: to develop the 3D structures that would be needed for a smart water filter.
Terry Speed doesn’t expect to see headlines reading “Statistician cures cancer” any time soon. But he knows that maths and stats can help researchers understand the underlying causes of cancer and reduce the need for surgery.
A mathematician and statistician, he has written elegant theoretical papers that almost no-one reads. But he has also testified in court, helped farmers and diamond miners, and given biologists statistical tools to help them cope with the genetic revolution.
People have speculated about the potential of quantum computers for decades—how they would make child’s play of constructing and testing new drugs, searching through huge amounts of data and ensuring security of information.
This scenario may be coming true in a high-tech basement at the University of New South Wales.
Each year in early July, when its 700 students are on holiday, Townsville State High School becomes the headquarters for a V8 Supercars race.
But before and after the race, Sarah Chapman’s Year 11 science students are hard at work, slopping their way through the nearby mangroves and wading into the neighbouring estuary. The data they collect is then used by the Great Barrier Reef Marine Park Authority to manage the impact of the race on local estuaries. “The students are really taken by the idea that they are finding out things nobody else knows,” Sarah says.
While researching the performance of the optical fibres that are the backbone of telecommunications and the internet, Tanya Monro realised that they could do much more.
She’s invented a new class of hollow or holey fibres using soft glass, which have thousands of applications as sensors: detecting metal fatigue in aircraft wings and other structures; monitoring contamination in water supplies; and a smart bung that monitors wine development while it’s still in the barrel.
James Whisstock and his Monash University colleagues have uncovered how the bacterium Helicobacter pylori sticks to the stomach lining, where it can cause ulcers and sometimes cancer.
The role of Helicobacter in causing gastric ulcers was originally discovered by Australian Nobel Laureates Barry Marshall and Robin Warren.
The recent work by James and his team was performed using the Australian Synchrotron and showed how the Helicobacter pylori protein SabA interacts with sugars present on the cells that line the stomach.
Over the past three years Australia has established and advanced a unique national engagement model—working with governments at all levels, with science sector agencies and organisations, as well as industry.