Tag Archives: genetics

Single test for over 50 genetic diseases will cut diagnosis from decades to days

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’.

Continue reading Single test for over 50 genetic diseases will cut diagnosis from decades to days

Why plumbers and teachers should have a say on designer babies and genetically enhanced potatoes

Ethical and social implications of powerful DNA-altering technology are too important to be left to scientists and politicians, researchers find.

Illustration by Alice Mollon

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 journal Science, 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.

Continue reading Why plumbers and teachers should have a say on designer babies and genetically enhanced potatoes

Mini-kidneys tell two sides of a genetic story

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

Are damselflies in distress?

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?

Widening the net on Motor Neurone Disease

Recent advances pinpointing genes involved in the inherited form of Motor Neurone Disease (MND) are now being used to hunt for the culprits of ‘sporadic’ cases.

Ian and his team are hunting the genes involved in Motor Neurone Disease. Credit: Paul Wright
Ian and his team are hunting the genes involved in Motor Neurone Disease.
Credit: Paul Wright

Sporadic MND is the most common form (around 90 per cent), and unlike the ‘familial,’ disease, it appears in patients without a family history.

Continue reading Widening the net on Motor Neurone Disease

Taking autoimmune disease personally

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.

Carola is using genetics to fight autoimmune disease. Credit: John Curtin School of Medical Research
Carola is using genetics to fight autoimmune disease. Credit: John Curtin School of Medical Research

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.

Continue reading Taking autoimmune disease personally

Genetics guiding anxiety treatment

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.

Genetic data are another piece in the puzzle of personalised treatment for anxiety. Credit: Chris Stacey, Macquarie University
Genetic data are another piece in the puzzle of personalised treatment for anxiety. Credit: Chris Stacey, Macquarie University

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.

Continue reading Genetics guiding anxiety treatment