Better vaccines are needed for the global fight against tuberculosis (TB). The Global Fund reports an estimated nine million new cases globally per year of TB, which is second only to AIDS as the world’s most deadly infectious disease.
Indonesia had more than 320,000 reported cases in 2014 according to the World Health Organization, while Australia’s reported cases were just over 1,000. But the rise of drug-resistant TB poses a threat to all countries.
Stubborn cancer cells play a cunning trick when faced with treatments designed to kill them—they eat themselves to survive. But Lisa Schafranek has found a way to starve the cancer cells, making them more susceptible to cancer therapy.
Golden staph (Staphylococcus aureus) was thought to be a single, well-defined species—until a recent Darwin discovery showing that bacteria with golden staph characteristics are actually three distinct species.
Sam Berkovic and Ingrid Scheffer have changed the way the world thinks about epilepsy, a debilitating condition that affects about 50 million people.
The Hon Tony Abbott, PM, with recipients of the 2014 Prizes, credit: Prime Minister’s Prizes for Science; Ingrid Scheffer and Sam Berkovic revealed the underlying genetic element of many epilepsies. Credit: Prime Minister’s Prizes for Science/WildBear
Twenty years ago doctors tended to regard most forms of epilepsy as acquired rather than inherited. In other words, they believed epilepsy was mostly due to injury: the result of things like a crack on the head in a car accident, a bad fall in the playground, a tumour, or something having gone wrong in labour. Parents felt responsible and the resulting guilt was enormous.
The two clinician-researchers from The University of Melbourne have led the way in finding a genetic basis for many epilepsies, building on their discovery of the first ever link between a specific gene and a form of epilepsy. Finding that answer has been of profound importance for families.
Along the way, Sam and Ingrid discovered that a particularly severe form of epilepsy, thought to result from vaccination, was actually caused by a gene mutation. This finding dispelled significant concerns about immunisation.
Dr Elena Tucker, geneticist, Murdoch Childrens Research Institute, Melbourne
Dr Elena Tucker (credit: L’Oréal Australia)
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.
White blood cells have proven to be the serial assassins of the immune system, moving quickly on to their next target once they’re released from a dying cancer cell’s grip.
Walter and Eliza Hall Institute of Medical Research/Royal Melbourne Hospital, Melbourne, Australia
Click image for hi-res. Photo: Dr Kylie Mason, Walter and Eliza Hall Institute of Medical Research/Royal Melbourne Hospital (credit: L’Oréal Australia/sdpmedia.com.au)
Dr Kylie Mason has set herself the goal of developing new ways of treating diseases that are considered incurable.
Prostate cancers are made up of hungry, growing cells. Now we’ve discovered how to cut off their food supply thanks to a study published in Cancer Research and supported by Movember. More below. Also Australian science discoveries you may have missed from the past week. Heart cells growing in a test-tube – Melbourne How birds […]
Hundreds of Aussie science achievements that you can share in speeches, posts and publications
