South Australian researchers to develop cutting edge genetic testing

The Leukaemia Foundation is funding a cutting-edge diagnostic test that would help clinicians identify specific gene mutations to offer more effective, targeted treatments for Australians living with blood cancer.

The SA Genomics Haematology Malignancies Node will have the first of three tests available across Australia in six months. This first test, which will sequence 38 genes at the same time – would initially be for people living with a range of myeloid neoplasms – allowing clinicians to identify mutations and then treat them with precision medicines, specific to that genetic anomaly.

At this time next year, clinicians would have access to a second test for myeloma – and a third innovative test for lymphoid malignancies would also be well into development.

Read the whole story here.

Blood Cancer Awareness Month

Blood Cancer Awareness Month is an international event that has been helping to tell the story of blood cancer each September since 2010.

As Australia’s blood cancer charity, the Leukaemia Foundation stands together with the world’s blood cancer community in support of this important awareness month.

You can help tell Australia’s blood cancer story in three simple ways:

  1. Share your blood cancer story, whatever it may be, to help empower others and show that every life counts. We’ll add everyone’s story to our new story wall.

  2. Help spread awareness about blood cancer on social media using our new resource library here. Don’t forget to tag the Leukaemia Foundation and use #MyLifeCounts and #BloodCancerAwarenessMonth in your posts and stories.

  3. September is also the perfect time to take a stand against blood cancer by registering for our Light the Night event, which will see the blood cancer community walk together at locations across Australia.

Read more about blood cancer and the cause here.

Lion Warrior - Fighting Stillbirths.

Rory and Belinda Sloane have shared an emotional video about their son, Leo, in the hope of reducing stillbirth rates in Australia.

Crows co-captain Rory Sloane and wife Belinda have shared an emotional and honest video commemorating their stillborn son’s first birthday, while also launching a new nationwide stillbirth research campaign.

Rory and Belinda have today launched “Lion Warrior” in partnership with the Red Nose foundation to honour their son, Leo Rory Sloane, who was born perfect, but still, on Friday, August 24 last year.

In the video, the couple has spoken about their joy — and sorrow — of Leo being born at 34 weeks, weighing just over 2.5kg, and 50cm long.

Read the full story here.

Watch the interview and learn more about the cause here.

2019 SA Scientist of the Year - Prof. Jozef Gecz

Our state’s top scientist of 2019 is a global leader in the genetic and biology of childhood disability including epilepsy, autism and cerebral palsy.

A dream to find a drug for multiple medical conditions is coming true for Adelaide’s top scientist striving to prevent childhood disability.

University of Adelaide neurogenetics Professor Jozef Gecz was named SA Scientist of the Year at last night’s Science Excellence Awards dinner in the Adelaide Convention Centre.

The professor is a global leader in the genetics and biology of childhood disability, including epilepsy, autism and cerebral palsy.

Over 25 years he has helped discover more than 200 relevant genes, with many now used in routine diagnostic tests worldwide. “My work has changed the understanding of the causes of neurodevelopmental disability, for early diagnosis and personalised interventions,” Dr Gecz said.

Read the full story here.

Watch the video here.

New $80m hi-tech hope to fight cancer

World-leading genomic cancer profiling and treatments will be available in South Australia for the first time at a new $80 million research institute in the city.

Hailed as a revolution in fighting the deadly disease in our state, the South Australian immunoGENomics Cancer Institute will target breakthrough discoveries and new tests and procedures for adults and children. It will be housed in the SAHMRI2 building, which is set to open on North Tce in 2021.

A brain drain of scientists and researchers leaving SA is also expected to be stemmed by the Cancer Institute training doctors in new research disciplines.

It comes as SA researchers announce a study that will grow brain cells in a dish to fast-track testing of drugs in the race to cure a terminal form of childhood dementia.

$2.5 million for project to tackle Sanfilippo Syndrome

The Sanfilippo Children’s Foundation is thrilled to secure AUD$2 million of Government funding and engage leading researchers at three partner institutes for a major drug screening project set to fast-track research towards effective treatments for the rare and terminal childhood dementia, Sanfilippo Syndrome.

Read more here.

Researcher in Focus - Jozef Gécz

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Jozef Gécz has long been a mover and shaker in the field of genomics.

Jozef Gécz, PhD is National Health and Medical Research Council Senior Principal Research Fellow and Channel 7 Inaugural Chair for the Prevention of Childhood Disability at the University of Adelaide and South Australian Health and Medical Research Institute.

Jozef’s career spans 32 years of competitive research in genomics and molecular biology of childhood onset neurological disorders across three countries, Slovakia, France and Australia.

Jozef arrived to Adelaide in 1994 to join the team of Prof Grant Sutherland at the WCH Hospital and with research focus on molecular genetics and mechanisms of intellectual disability. After initial success with the identification of the first non-syndromic intellectual disability gene FMR2 or bone dysplasia gene TRAPPC2 Jozef discovered or contributed to the discovery of >200 disease genes. His research interest expanded to include genetics of other neurodevelopmental disabilities, that is childhood onset epilepsies (e.g. PCDH19, CDKL5, TBC1D24), autisms (e.g. UPF3B) and more recently a specific group of movement disorders, that is cerebral palsies (first whole exome sequencing study). Jozef’s achievements have been recognised, among others, also by Fellowships of the Australian Academy of Science, Australian Academy of Health and Medical Sciences and the Faculty of Science of the Royal College of Pathologists of Australasia.

Jozef is one of the Chief Investigators and member of the National Steering Committee of the NHMRC Funded Australian Genomics effort. Jozef’s research is patient driven and patient centric. It focuses on the application of genomics for early and precise diagnosis of neurodevelopmental disabilities to empower early intervention and personalised management and treatment.

Senate Inquiry into Stillbirths

On 27 March 2018 the Senate established the Select Committee on Stillbirth Research and Education to inquire and report on the future of stillbirth research and education in Australia.

SA Genomics Health Alliance Members Hamish Scott and Chris Barnett spoke at the SA inquiry highlighting the importance of using genetic data to determine the causes of stillbirth.

Using a genomic approach and examining the entire DNA sequence of patients, they are able to identify genetic causes that underlie stillbirth.

Read the final report here

May 2018 Prestigious award for CCB professor’s genome research

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Congratulations to Professor Greg Goodall from the Centre for Cancer Biology on being awarded the Julian Wells Medal at the 2018 Lorne Genome Conference. The annual award is given to a scientist who has made an outstanding contribution to the understanding of the organisation and expression of the genome, has made a major contribution to the development of this field of research in Australia.