A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.
‘We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more,’ says Dr Ira Deveson, Head of Genomics Technologies at the Garvan Institute and senior author of the study.
The diseases covered by the test belong to a class of over 50 diseases caused by unusually-long repetitive DNA sequences in a person’s genes – known as ‘Short Tandem Repeat (STR) expansion disorders’.
Ethical and social implications of powerful DNA-altering technology are too important to be left to scientists and politicians, researchers find.
Designer babies, mutant mozzies and frankenfoods: these are the images that often spring to mind when people think of genome editing.
The practice – which alters an organism’s DNA in ways that could be inherited by subsequent generations – is both more complex and less dramatic than the popular tropes suggest.
However, its implications are so profound that a growing group of experts believe it is too important a matter to be left only to scientists, doctors and politicians.
Writing in the journalScience, 25 leading researchers from across the globe call for the creation of national and global “citizens’ assemblies”, made up of lay-people, tasked with considering the ethical and social impacts of this emerging science.
Gene editing technology combined with stem cells provides a powerful new way to study genetic kidney diseases and their treatments.
Melbourne researchers have used mini-kidney ‘organoids’ grown in the lab to unravel the mystery of why Mainzer-Saldino syndrome, a rare disease involving a single defective gene, causes life-threatening kidney damage. In doing so, they’ve proven an approach that can be used to study a whole range of other genetic kidney diseases. Continue reading Mini-kidneys tell two sides of a genetic story→
Damselflies are evolving rapidly as they expand their range in response to a warming climate, according to new research led by Macquarie University researchers in Sydney.
“Genes that influence heat tolerance, physiology, and even vision are giving them evolutionary options to help them cope with climate change. Other insects may not be so lucky,” says Dr Rachael Dudaniec, lead author of the paper. Continue reading Are damselflies in distress?→
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.
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.
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.