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Genetic sequencing in Australia could revolutionise cancer diagnostics

It is being called ‘the frontier of medical science”’.

Cancer research, genetic research, research, discoveries, fighting cancer, funding research, types of cancer, progress, genetic research, cancer scientists

The potential to pre-empt cancer diagnosis with genetic testing has taken a major step forward following the first Australian NATA* accreditation for ‘whole exome sequencing’.

SA Pathology’s Genetics and Molecular Pathology laboratory, in collaboration with the Centre for Cancer Biology’s ACRF genomic research facility, have received this important stamp of approval to test the complete set of human genes in a single assay, using cutting-edge Next-Generation Sequencing (NGS) Technology.

Professor Hamish Scott, Director of the ACRF Cancer Genome Facility at SA Pathology’s Centre for Cancer Biology explains: “In human DNA there are six billion data points, 2% of them are our genes, which can be sequenced in an ‘exome’. We’re searching through over a hundred million bases to try and find an anomaly or a mutation that may be causing disease.”

This landmark accreditation rewards many years of research dedication and collaboration between research and funding bodies, including the Australian Cancer Research Foundation.

Dr Karin Kassahn, Head of Technology Advancement says, “With this new approach, genetic tests will take months, not years, and see an end to some of the uncertainty – there will be definitive results for more patients.”

“These technologies weren’t available a decade ago, but now genomics is set to play a major role in medical treatment. If we get this right, genetic testing will become an integral part of health care, available to everyone in need.”

Professor Scott has said that unfortunately many rare genetic conditions still don’t have an effective treatment or cure.

“But if we can pick these things up, we may be able to alleviate symptoms with new therapies and help patients and families manage their disorders,” he said.

“This is the future of healthcare, what’s known as ‘personalised’ or ‘precision’ medicine.”

The ACRF is proud to have supported the world-class research teams at SA Pathology, Centre for Cancer Biology. We thank our donors and fundraisers for their dedication to cancer research, without which, this important progress would not have been possible.

This information was originally published by SA Pathology and can be viewed here.

*NATA is the National Association of Testing Authorities in Australia. It ensures facilities, testing and measurement methods comply with relevant international and Australian standards.

World-first research centre signifies a new era for cancer research

Cancer charity, fundraising, new facility, research, cancer research, children's hospital, discoveries, types of cancer, genetic research

The Australian Cancer Research Foundation Telomere Analysis Centre officially opened its doors this week to become the world’s first facility to specialise in Telomere research.

Recent findings argued a strong case for the development of this cutting-edge facility, indicating Telomeres could hold the answers to significant advancements in the treatment of some of the most aggressive types of cancer.
Telomeres are structures that cap the ends of our chromosomes. They serve a critical role in the cell renewal process and under normal conditions, gradually shorten as we age.

But studies at the Children’s Medical Research Institute have shown that cancer cells develop ways to disrupt this natural process. They re-program cells to prevent their telomeres from shortening, causing the DNA to “short-circuit” and cells to multiply out of control.

Furthermore, researchers have found ‘lock’ mechanisms on normal cancer cells which prevent this process. The ‘lock’ on cancer cells, however, is damaged, providing researchers with a new target for treatment.

CMRI Director, Professor Roger Reddel, who was involved in the research, said “We think that losing this lock makes cancer cells vulnerable to treatments that normal cells are protected against. So we may have found an Achilles heel for certain types of aggressive cancer.”

“The ACRF’s Medical Research Advisory Committee assessed this research initiative as both nationally ground-breaking and internationally competitive. The ACRF and our supporters are very proud to fund this life-saving work at CMRI,” said ACRF Chief Executive, Professor Ian Brown.

The new ATAC facility was funded with a $2 million ACRF grant and is outfitted with some of the most advanced technology and cutting-edge equipment that exist in this field. These microscopes and computer analysis stations provide speed and accuracy on unparalleled levels, helping to propel telomere-related cancer research to new heights and accelerate the race toward new treatments, and ultimately, cures for cancer.

New screening technique developed to detect ‘silent’ ovarian cancers early.

Cancer scientists, UNSW, cancer research, discoveries, current cancer research, ovarian cancer, funding research, detection, diagnosis, advancement
University of NSW Vice-Chancellor Ian Jacobs. Image source: UNSW Newsroom

 

Ovarian cancer is often referred to as a ‘silent killer’, with around one hundred thousand women succumbing to the disease globally each year. Symptoms can be very vague, and the disease often spreads before the cancer can be found.

But there is new hope for early detection. The latest results from a clinical trial led by UNSW Vice-Chancellor, Prof. Ian Jacobs, in collaboration with University College London, have shown a novel new screening method can identify twice as many women with ovarian cancer as existing strategies.

The new screening programme allows researchers to better interpret the changing levels of a specific protein called CA125 (which has been linked to ovarian cancer) through a blood test, giving a highly accurate prediction of a woman’s individual risk.

“The sensitivity is very, very high – much higher than people thought would be possible,” said Professor Jacobs. The new method detected cancer in 86% of women with invasive epithelial ovarian cancer (iEOC).

Previous methods, which detected just 41%, would only raise concern once the concentration of this protein had passed a fixed threshold. The problem with this was that certain women with high levels didn’t actually have cancer, while others with levels below the threshold did.

Professor Jacobs says, “What’s normal for one woman may not be so for another. It is the change in levels of this protein that’s important.”

The trial involved over two-hundred thousand post-menopausal women aged 50 or over and was the largest of its kind to date in the world.

“My hope is that when the results of UK Collaborative Trial of Ovarian Cancer Screening are available, this approach will prove capable of detecting ovarian cancer early enough to save lives.”

Prof. Jacobs’ team are awaiting further test results later this year before the method has proved capable of detecting ovarian cancer early enough to save lives. If these results are positive, Prof. Jacobs says the method will likely be adopted in an annual screening program.

This article was originally published on UNSW Newsroom, to read the full article click here.

A Soldier Saved

Simon Toovey_and sonV2

“I support the ACRF because my son is alive and well today thanks to the great strides being made in cancer research around diagnosis and treatment.

My 23 year old son was diagnosed with testicular cancer during his final year of training to become an Officer in the Australian Army. Within days of hearing the news he had to go in for surgery and had an orchiectomy. Unfortunately though, at that point, the cancer had already spread to his lymph nodes and he was told that he would have to undergo chemotherapy treatments.

He began his chemo immediately following his graduation from the Royal Military College in December 2013. But as bad luck would have it, he didn’t get an all clear, even after four rounds of chemo. So the next step was an extensive open abdominal surgical procedure, known as a retroperitoneal lymph node dissection (RPLND) which was followed by a lengthy recovery. Fortunately, he’s now in remission and has embarked on what will be a proud military career.

Becoming a Partner in the Cure was a small way for me to help others become cancer survivors like my son.”

Simon Toovey, Regular Giver of the Month.

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