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Lumen Summer 2017 Issue
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Microscopy labs focus on the miniscule

Claire Holman

Claire Holman

The impressive range of highly sensitive equipment installed at Adelaide Microscopy allows researchers to study miniscule nano-materials right down to the atomic level.

The Core Microscopy Laboratories at the University of Adelaide North Terrace and Waite campuses provide researchers with access to the most technologically advanced instrumentation for both microscopy and microanalysis.

The North Terrace facility was upgraded last year and named after alumnus Emeritus Professor George Rogers who helped pioneer the use of transmission electron microscopes in Australia.
Now aged 88, George is still an active user of the microscopy facilities and mentors many current students.

Adelaide Microscopy has six new laboratories in North Terrace including a specially designed magnetically shielded laboratory to house the University’s $3.6 million atomic resolution transmission electron microscope.

The 3.5 metre tall electron microscope is a critical piece of research infrastructure and is available to researchers and industry for materials used in areas such as renewable energy, advanced manufacturing, mining and exploration.

In addition to the latest electron beam technologies, Adelaide Microscopy also offers optical, laser confocal, multiphoton, in vivo, live cell and x-ray CT imaging techniques.

Cell research targets female epilepsy

Tracking the migration of the brain’s neurons sounds like the stuff of science fiction.

But that’s precisely what University of Adelaide alumna and PhD student Claire Homan has been doing as she helps unravel the mysteries of one of the most debilitating forms of epilepsy.

Her research is investigating the cause of the female-specific Protocadherin 19 (PCDH19) related epilepsy which affects the lives of thousands of young girls worldwide.

Access to highly sensitive equipment at the University’s Adelaide Microscopy centre is helping Claire better understand the functions of the PCDH19 X-chromosome gene during development of a child’s brain.

In an important discovery she’s found that PCDH19 plays a crucial role in neuronal migration. It’s thought mutations in the gene could disrupt normal development and send the neurons to the wrong part of the brain.

Claire says she’s been fascinated by the workings of the human brain since studying her Bachelor of Science (Genetics and Biochemistry) degree at Adelaide and then a first class honours Bachelor of Sciences (Genetics) degree in 2009.

“I’ve always been interested in learning how the brain works, it’s the most important organ in the body and controls everything,” she says.

“If you can understand how the brain works and what can go wrong during its development we can identify ways to help patients with different neurological disorders.”

Claire is undertaking her PhD research in the University’s Neurogenetics Laboratory which is collaborating with research teams in Australia and overseas on finding a cure for
PCDH19-related epilepsy.

The condition affects everyone differently and in most cases is debilitating. Both sexes can be born with the gene mutation but only girls are affected by the disorder.

They appear perfectly normal in the first few months before suffering severe and frequent seizures when they reach about eight months.

“While the seizures tend to disappear by adulthood, patients can also suffer from intellectual disability and autism which remains for life,” says Claire.

It’s estimated that about 1000 females suffer from the condition in Australia.
Claire’s research involves two different projects.

She’s been using the latest immunofluorescence microscopy techniques to examine stem cell behaviour in mice.

“I looked at the ability of the stem cells to self renew and produce more stem cells and I also looked at their ability to turn into other cell types in the brain such as neurons,” says Claire.
“We found that in cells that didn’t have a functional copy of PCDH19 the neurons migrated further.”

The second part of the study has taken Claire into a new and exciting area of research involving induced pluripotent stem cells (iPSCs).

Pioneered in Japan, iPS cells can be generated directly from adults and propagated into every other cell type in the body. The technology allows researchers to avoid the controversy of using embryonic stem cells.

“One of the main reasons I chose this project was because I was really excited to use this new technology,” says Claire. “It’s crucial for discovering what’s occurring in human cells that are directly relevant to the disorder.

“Mice tell us a lot but iPSC technology allows us to make human neurons from patients so that we can identify what’s different about them.”

Claire used skin cells from two affected females and one male in the experiment but could only make iPS cells from the male, whose daughter also has the disorder.

“It means we have an iPS cell line to model development of the patient’s brain,” she says. “We can turn the iPS cells into neural stem cells and then into cortical neurons to see how they behave and what’s different about them.”

Such knowledge is an important step towards finding possible treatments.

“It’s an exciting development in the field of iPSC because you can use actual patient cells in dish cultures and try different drugs to see how they respond,” says Claire.

“Our research is still in the early stages but iPSC technology has the potential to open the way for treatments in the future.”

Story by Ian Williams


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