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Under the microscope

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Hereditary blindness cured?

A Tasmanian-led research team has successfully altered eye tissue in a laboratory by replacing genes that cause blindness with normal genes.

The team used molecular gene shears deployed through a simple injection into the eye. The shears latched on to individual eye cells, chopped out DNA fragments containing rogue genes, and replaced them with normal genes.

Lead researcher Associate Professor Alex Hewitt, from the University of Tasmania’s Menzies Institute, said regulators would need to be satisfied that the technique was safe, and that the shears could be turned off once they had done their job before starting human trials.

Human medical trials are expected to commence in less than five years.

For more information visit http://www.menzies.utas.edu.au/home/nested-content/feature-large/our-research-is-leading-the-way-towards-prevention-and-better-treatment-of-inherited-eye-diseases

Low rates of cervical cancer screening

A report by the Australian Institute of Health and Welfare has found that only three in five eligible Australian women had a pap test in the past two years.

In 2013-2014, 3.8 million women aged 20 to 69 years (57 per cent) participated in cervical screening.

Despite the low participation rate, Australia’s cervical cancer rates are considered low by international standards.

In 2012, there were 725 new cases of cervical cancer diagnosed and in 2013 there were 149 deaths. This is equivalent to between nine and ten new cases of cervical cancer diagnosed per 100,000 women and two deaths from cervical cancer per 100,000 women.

For more information the report, Cervical screening in Australia 2013-2014, can be found at http://www.aihw.gov.au/publication-detail/?id=60129554885

Pain leading cause of severe behaviour in dementia

Existing or undiagnosed pain has been linked to severe behavioural symptoms associated with dementia, according to Australian researchers.

Associate Professor Stephen Macfarlane, Head of the Clinical Governance for the Dementia Centre for HammondCare, and his research team identified that in 65 per cent of cases, pain was the main contributing factor to severe behaviours in dementia patients. Other leading factors included environment (60 per cent), limited carer knowledge (38 per cent), and depression (21 per cent).

Associate Professor Macfarlane said that it was common to find that, instances where pain contributed to behaviours involving aggression, agitation, and anxiety for dementia patients, that once it was alleviated the intensity of such behaviours was significantly reduced.

“Pain is an enormous issue for people living with dementia, and for older people generally, and is often undiagnosed as a contributing factor to behaviours,” Associate Professor Macfarlane said.

For more information visit – http://www.hammond.com.au/news/pain-major-contributing-factor-for-severe-behaviours-in-dementia

Malaria’s weakness exploited

Australian National University researchers have found that changes in the protein that enables a malaria parasite to evade several anti-malaria drugs also make the parasite hyper-sensitive to other therapies – a weakness that could be exploited to cure the deadly disease.

The researchers said the findings could prolong the use of several anti-malarial drugs to treat the disease which kills 600,000 people around the world each year.

Lead researcher Dr Rowena Martin said the interactions of the modified protein with certain drugs were so intense that it was unable to effectively perform its normal role, which was essential to the parasite’s survival.

“Essentially, the parasite can’t have its cake and eat it too. So if an anti-malaria drug is paired with a drug that is super-active against the modified protein, no matter what the parasite tries to do it’s checkmate for malaria.”

The study was published in the PLOS Pathogens journal.

Whole-genome testing now available

Australia has its first clinical whole-genome sequencing service which could triple the diagnosis rates for Australians living with rare and genetic conditions.

The service was launched by the Garvan Institute of Medical Research’s Kinghorn Centre for Clinical Genomics. Director Professor John Mattick said the service marked a turning point in disease diagnosis and health care in Australia.

Patients seeking a diagnosis for a possible genetic condition will be referred to a clinical genetic service which will work with NSW Health Pathology to assess whether whole genome sequencing can provide an answer.

Those who may benefit will then be able to access the service, which will screen all 20,000 genes at one time.

The simple blood test costs $4300, and has the capacity to identify the biological cause of illnesses so rare only a handful of people have the condition worldwide.

For more information visit http://www.garvan.org.au/research/kinghorn-centre-for-clinical-genomics/clinical-genomics/sequencing-services

Kirsty Waterford

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