Archives

2015

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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2014, L’Oréal For Women in Science

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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2014

White cell assassins prove kiss of death for cancer

White blood cells have proven to be the serial assassins of the immune system, moving quickly on to their next target once they’re released from a dying cancer cell’s grip.

Misty Jenkins. Credit: L’Oréal Australia/sdpmedia.com.au

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2014

Typhoid tips off new epidemic approach

A typhoid outbreak in Kathmandu has provided new insights into bacterial epidemics and antibiotic resistance, thanks to a Melbourne scientist’s genomic research.

Kathryn Holt. Credit: L’Oréal Australia/sdpmedia.com.au

Kathryn Holt, of the University of Melbourne’s Bio21 Institute, used genome sequencing to discover that an epidemic of deadly typhoid bacteria in Nepal’s capital city was driven by climate, and not by the outbreak of novel genetic strains.

Her research, published in the Royal Society journal Open Biology, changes our understanding of how typhoid spreads and how we can better respond to other bacterial epidemics.

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2014

Glucosamine study raises fertility concerns

Research on the effects of the popular joint supplement glucosamine has raised fears for women’s fertility, and a knee-jerk reaction from the vitamin industry, as Adelaide scientists reveal its threat to conception.

Photo: Green staining in a glucosamine-treated egg (bottom) shows increased activity in the glucose-sensing pathway compared with a control (top). Credit: Robinson Research Institute

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2014

Obese dads leave kids with fat chance

An obese father increases the risk of his children and grandchildren becoming obese, even if they follow a healthy diet. That’s the implication of a series of mouse studies conducted at the University of Adelaide.

Photo: A mouse with diet induced obesity and its control counterpart. Credit: Robinson Research Institute

The researchers found that a father’s high-fat diet could change the molecular make-up of his sperm, leading to obesity and diabetes-like symptoms in two generations of offspring.

“With obese fathers, changes in the sperm’s microRNA molecules are linked with programming the embryo for obesity or metabolic disease later in life,” says Tod Fullston, the study’s lead author and an NHMRC Peter Doherty Fellow with the University of Adelaide’s Robinson Research Institute.

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2014

Preterm birth linked to teen school angst

Large numbers of premature-born children may be slipping under the radar, say researchers who have found brain development problems in teenagers deemed clinically normal after a late preterm birth.

Children born even one to five weeks premature can show reduced skills later in life.

Julia Pitcher and Michael Ridding, of the Robinson Research Institute, University of Adelaide, found that children born even one to five weeks premature showed reduced ‘neuroplasticity’ as teenagers. Their study provides the first physiological evidence of the link between late preterm birth and reduced motor, learning and social skills in later life.

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2014

Gastro discovery leads to worldwide vaccine rollout

Fifty million children in the world’s poorest countries will be vaccinated against the deadly rotavirus by 2015, thanks to the breakthrough work of a quiet Melbourne researcher.

Ruth Bishop. Credit: Stepping Stone Pictures

Ruth Bishop’s rotavirus discovery led to the development of the vaccine currently being rolled out by the Global Alliance for Vaccines and Immunisation—and to her declaration as 2013 CSL Florey Medal winner.

Each year, around half a million children die from rotavirus infection and the acute gastroenteritis it causes.

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2014

Axolotls out on limb for future human hope

An axolotl’s ability to regrow limbs and repair brain and heart tissue could shed light on how humans might one day do the same, after Melbourne scientists discovered the key role played by macrophages, immune system cells, in the animal’s regenerative process.

Axolotls are known for their ability to regrow limbs.

James Godwin and his colleagues at the Australian Regenerative Medicine Institute (ARMI) have identified the critical role of macrophages in axolotl tissue regeneration, raising the hope of future treatments for human spinal cord and brain injuries, as well as heart and liver disease.

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