Tag Archives: genetics

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.

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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.

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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.

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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.

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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.

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Understanding the genetic contribution to epilepsy

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.

Ingrid Scheffer with one of her young patients Credit: SDP/ L’Oréal
Ingrid Scheffer with one of her young patients. Credit: SDP/ L’Oréal

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.

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New chlorophyll a gateway to better crops

A chance finding has led to the first new chlorophyll discovered in 67 years, opening up possibilities for biofuel and food crops to use sunlight more efficiently.

2011 Life Scientist of the Year Min Chen. Credit: Prime Minister's Science Prizes/Bearcage
2011 Life Scientist of the Year Min Chen. Credit: Prime Minister’s Science Prizes/Bearcage

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