And more at the International Congress of Genetics
- New gene linked to persistent stuttering, thanks to Michael Hildebrand’s team across 18 institutions. Brain imaging shows that people with this defective gene develop anomalies in brain regions critical for speech.
- Early and personalised interventions into cerebral palsy are possible from broad genomic testing, says Clare van Eyk from Robinson Research Institute.
- Killifish suffer from the same diseases of old-aging that we do – cancer, short telomeres, and wasting muscles. Then the muscle wasting slows and may even reverse. Could that happen to people as well? Avnika Ruparelia unravels the mysteries of vertebrate aging at Australia’s only killifish research facility.
- Faster, kinder, less expensive: using genomic sequencing to diagnose mitochondrial disorders has many benefits says MCRI’s John Christodoulou.
- Cold cases: around 70% of patients with suspected genetic disorders don’t get a diagnosis from their genomic testing. Fiona Lynch from MCRI is exploring if reanalysis years later could solve these cold cases.
- 71 per cent of Australians believe that gene testing does not necessarily contribute to effective cancer or disease treatment, according to a survey released by Illumina. At the same time lives are being transformed, for those in the know.
More on all these stories below.
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Full Congress program at https://www.icg2023.com.au
Public program details at https://www.icg2023.com.au/public-program
Media releases at https://www.scienceinpublic.com.au/genetics
Read on for more information about each story.
A mutation that causes persistent stuttering
Stuttering is common, affecting about five per cent of children and about one per cent of adults.
Despite being highly heritable based on twin studies, only four genes have so far been implicated in stuttering.
Michael Hildebrand from the University of Melbourne, with the support of a large team across 18 institutions, have implicated a fifth gene, and a new protein chaperone pathway, in severe developmental stuttering.
Family members and a mouse model with this defective gene develop analogous anomalies in brain regions critical for speech.
This is the first study to link structural brain anomalies to developmental stuttering.
These findings support changing the diagnostic protocol for people who stutter to include brain imaging studies. They may also lead to new chaperone protein targets for precision medicine therapies including cyclophilin-40 (CyP40) protein itself as well as known interacting partners like heat shock protein 90 (HSP90).
This study has received positive reviews from high impact international neuroscience and translational journal Brain (IF 15.255).
Faster, kinder, less expensive: using genomic sequencing to diagnose mitochondrial disorders.
Mitochondrial disorders are notoriously difficult to diagnose because of their broad clinical variability and complex genetic components.
John Christodoulou from MCRI with colleagues from 26 institutions have shown that genomic sequencing can provide a genetic diagnosis in over half of individuals suspected of having a mitochondria disorder, potentially avoiding the need for expensive and invasive respiratory tests.
Working through the Australian Genomic Health Alliance Mitochondrial Flagship, they’ve also shown that adoption of genomic sequencing for these disorders could save over $700,000 a year nationally.
Cold cases: solving more genetic mysteries through reanalysis
Around 70% of patients with suspected genetic disorders don’t get a diagnosis from their genomic testing.
Every year hundreds of new genetic causes of disease are found. If we reanalysed past cases, we may find answers. But this requires huge amounts of time and people-power.
Fiona Lynch from MCRI is exploring how we could automate the process of reanalysis while maintaining essential ethical standards.
Does muscle-wasting reverse in ‘late-life. It does in killifish.
African killifish eggs can wait years for water. When the rains come, the eggs hatch, but the fish only have a record-breaking three-month short life.
Within a few months, the fish suffer from the same diseases of ageing that we do – cancer, reduced regenerative capacity, short telomeres and wasting muscles. Then, the muscle wasting slows and may even reverse. Could that happen in people as well?
Avnika Ruparelia from ARMI and The University of Melbourne runs the only killifish research facility in Australia, working with these amazing fish to unravel some of the mysteries of vertebrate ageing.
“African killifish are beautiful – ranked among the top “world’s most gorgeous fish” list,” says Avnika.
And they have a unique life history: In addition to having an extremely short lifespan (which is great for ageing studies), their larval stages are quite unique as well. During the dry season, the eggs deposited in the mud undergo developmental arrest and they can stay there for months, if not years. Once it starts raining (or you expose them to water), they resume development and then hatch, grow rapidly and then start to age. So essentially, they have these two stages: the egg stage which can undergo developmental arrest, which could give clues to anti-ageing mechanisms, and the adult stages, whereby ageing occurs rapidly.
Avnika had a paper in May – https://bit.ly/3rtsEjt.
What is cerebral palsy? Can we identify causes?
Cerebral palsy is a clinical description that encompasses a spectrum of non-progressive movement disorders.
Clare van Eyk from the University of Adelaide and Robinson Research Institute will report on the Australian Cerebral Palsy Biobank which now holds DNA, samples, and data for more than 500 Australians with cerebral palsy. More than a quarter of them have a genetic cause for their condition.
The genes and variants that Clare and her colleagues found are highly varied suggesting that broad genomic testing should be part of the diagnostic work up for cerebral palsy, enabling early and personalised interventions.
71 per cent of Australians believe that gene testing does not necessarily contribute to effective cancer or disease treatment.
As today’s stories from the International Congress of Genetics illustrate, genomics is already revolutionising healthcare and improving health outcomes in Australia. Much more is to come.
And yet, according to a survey conducted by Lonergan on behalf of Illumina, 71 per cent of Australians believe that gene testing does not necessarily contribute to effective cancer or disease treatment.
Many Australians also have concerns about genomic medicine. Only 27% expressing no concerns. The majority of people have a range of concerns around genomics from anxiety over potential disease (38%), data leakage (34%), discoveries raising insurance premiums (24%) to genetic information being used in cloning (23%) and gene editing (24%).
“The survey illustrates the need for further education around the benefits of genomics, and the vital and growing role it plays in medicine,” says Professor Phil Batterham, co-convenor of the International Congress of Genetics.
“Public understanding of genetic concepts and policy issues are key to enabling informed deliberation and decision-making.”
Simon Giuliano, Country Lead Australia Illumina is available for interview about the survey. Illumina is a global leader in DNA sequencing and array-based technologies.