Tag Archives: disease

Single test for over 50 genetic diseases will cut diagnosis from decades to days

A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

‘We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more,’ says Dr Ira Deveson, Head of Genomics Technologies at the Garvan Institute and senior author of the study.

The diseases covered by the test belong to a class of over 50 diseases caused by unusually-long repetitive DNA sequences in a person’s genes – known as ‘Short Tandem Repeat (STR) expansion disorders’.

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Fighting disease together

Malaria kills 500,000 people every year. And 90 per cent of those are children. Griffith University researchers are screening hundreds of thousands of compounds supplied by Japanese companies to find the right compound with activity against the malaria parasite.

Japan’s Global Health Innovative Technology Fund is supporting the research as part of their search for new ways to fight malaria.

“GHIT is a fund that invests in partnerships between Japanese and non-Japanese entities,” says BT Slingsby, the Executive Director of GHIT.

“Many of those entities are in Australia including The University of Melbourne, The Walter and Eliza Hall Institute, and Griffith University.”

“Currently we’re working with companies such as Daiichi-Sankyo, Takeda, Mitsubishi Tanabe, and Eisai,” says Griffith University’s Vicky Avery. 

They bring those compounds to us. We then dispense them into plates which contain the parasite we’re trying to kill.  After they’ve been incubated for a period of time we then look to see whether they’ve had an effect in killing the parasites.

“Once one defines a hit, usually it’s the pharmaceutical company that drives forward the further development of that compound to create a drug.

“This collaboration is fantastic in that it has three groups who complement each other,” Vicky says.

The Japanese pharma companies bring expertise in drug discovery and development.  GHIT has managed to pull together significant funding from both global partners as well as the Japanese Government. And Griffith University brings the biology expertise.

Measuring the risk of an Australian Zika outbreak

The conditions have been right for Zika virus to spread during the warmer months of past years in Townsville, Cairns and Rockhampton, according to research led by the Australian Red Cross Blood Service.

Using temperature data from January 2015 to December 2016, the team modelled the ability of mosquitoes to spread the virus in four Queensland cities. Brisbane (the fourth city) was the only site where the risk was low.  

“If locations experience outbreaks of dengue, the conditions would also be right for outbreaks of Zika,” says lead researcher Dr Elvina Viennet.

The findings emphasise the need for imported cases to be reported immediately, Elvina says.

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Island nations sharing expertise, not pests

Biosecurity research, training and education in Indonesia and Australia are set to benefit from a bilateral research agreement between five Indonesian research organisations and the Australian Plant Biosecurity Cooperative Research Centre (PBCRC), announced in April 2016.

The first project in the partnership is the development of a virtual diagnostic network using the Pestpoint software developed by the PBCRC.

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