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Genetics

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Maddie Thwaites and Ciaran McAuley with their two-year-old daughter, Mairead.

‘I am just so thankful’: The test that let little Mairead beat the odds

The findings of a landmark genetic study bolster calls for the federal government to establish a free expanded carrier screening program.

  • Kate Aubusson

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The life insurance industry has been allowed to ask for genetic screening results when issuing some policies.

Insurers banned from jacking up premiums based on your genes

People who undergo genetic testing for medical purposes will never be obliged to share their results with insurers, and insurers will not be allowed to ask.

  • Natassia Chrysanthos
NEWS: Nadine and David with Sasha Lipworth (6) who was diagnosed in October 2023 with an ultrarare genetic mutation called SLC6A1 that causes epilepsy and dementia. She is one of only two people in the world with her particular mutation.

Sasha has a disease so rare, it doesn’t have a name

An ultra-rare genetic mutation has seven-year-old Sasha Lipworth regressing into infancy. Her diagnosis this month gives her a front-row seat to the future of medicine.

  • Angus Thomson
Scientists this month identified the specific mutation causing Sasha Lipworth's regression into infancy, a first step towards an RNA therapy that could correct these issues in the future.
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Sydney family seek treatment for daughter with ultrarare disease

Scientists this month identified the specific mutation causing Sasha Lipworth's regression into infancy, a first step towards an RNA therapy that could correct these issues in the future.

An example of a normothermic perfusion machine (not the one used in the study). The machines keep livers alive, metabolising glucose and producing bile for days outside the body.

Why Sydney scientists kept two livers alive in a box for a week

The world-first study used an organ-preserving machine nicknamed a “liver in a box” that could revolutionise the way scientists trial medicines.

  • Angus Dalton

Will a revolutionary DNA-editing tool end disease – or threaten humanity?

When US biochemist Jennifer Doudna discovered the key for editing DNA, she opened scientific frontiers full of promise – and peril.

  • Greg Callaghan
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Scientists hope a swab of saliva or drop of blood could reveal your risk of thousands of diseases. But is that a crystal ball worth looking in to?

The genetic ‘crystal ball’: Would you want to know which disease will kill you?

Your risk of cancer, heart attack and Alzheimer’s could be revealed with a swab of saliva. But the burgeoning DNA technology has significant flaws.

  • Angus Dalton
Megan Maack (centre) and her children Isla, 14 (right) , and Jude, 12.

‘Years my kids didn’t have’: Boost to Australian gene therapy development

When Megan Maack’s two children were diagnosed with childhood dementia, it took years for a drug that could help to be available in Australia.

  • Mary Ward
The Don’t Die movement, founded by US tech billionaire Bryan Johnson, has spread to Sydney.

Gene therapy, blood transfusions, stool monitoring: The Sydneysiders trying to escape death

Tech billionaire Bryan Johnson is convinced he’ll be able to cheat death. His “Don’t Die” movement has hit Australia, and Sydneysiders are signing up to his regime.

  • Amber Schultz
Mother-of-two Louise Kruger says genetic testing saved her after she discovered she had the gene for breast cancer in her 20s.

Louise says genetic testing saved her life. But others are being put off

Concerns about how life insurance deals with genetic testing are deterring people from getting important tests. Even the industry welcomes government intervention.

  • Natassia Chrysanthos

Original URL: https://www.brisbanetimes.com.au/topic/genetics-jr4