More than 1.2 million Australians have an autoimmune disease. But any two people may experience it very differently, even if their disease has the same name.
Unlike infectious diseases, autoimmune diseases are not passed from person to person. They are our bodies fighting themselves, making every person’s disease unique.
“A lot of clinical trials fail as they treat all patients with a certain ‘disease’ as one big group,” says Professor Carola Vinuesa, from the National Health and Medical Research Council Centre for Research Excellence in Personalised Immunology at The Australian National University.
For years we’ve been identifying genetic markers linked to mental disorders. Now it appears those same markers could also tell us who will best-respond to treatment.
A study of over 1,500 children, as part of the international Genes for Treatment collaboration, found those with a specific genetic marker were more responsive to psychological therapy than those without.
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.
An auto-correct system for genetic errors in plants is helping plant breeders grow robust hybrid crops more efficiently. It also offers new tools for modifying human and animal proteins without modifying their genomes.
Sam Berkovic and Ingrid Scheffer have changed the way the world thinks about epilepsy, a debilitating condition that affects about 50 million people.
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 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.
Twenty years ago doctors thought epilepsy was caused by injuries or tumours but, thanks to the work of a Melbourne paediatrician, we now know that there’s a large genetic factor.
Prof Ingrid Scheffer, a paediatric neurologist at the Florey Neuroscience Institutes and the University of Melbourne, has spent the last 20 years looking at the genetics of epilepsy, particularly in children.
We now know that genes play a large role and that’s opened the way to better diagnosis, treatment, counselling, and potential cures.
In particular, Ingrid’s team and her collaborators at the University of South Australia have discovered that one kind of inherited infant epilepsy is due to a single letter change in the genetic code.