Tag Archives: genetics

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

The genetics of epilepsy: bringing hope to families

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
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.

Continue reading The genetics of epilepsy: bringing hope to families

Solving rare disease mysteries

Dr Elena Tucker, geneticist, Murdoch Childrens Research Institute, Melbourne

Dr Elena Tucker (credit: L’Oréal Australia)
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.

Continue reading Solving rare disease mysteries