Identifying genetic mutations which cause cancer.
Did you know that everyone has a genome made from about three billion pieces that make us who we are?
A genome is the complete set of genetic material within a cell. Unfortunately, mutations in a genome can cause diseases like cancer.
To help identify these mutations and make sense of the three billion piece puzzle, researchers enlist the help of a “bioinformatician”. Think maths, computer science and biology all rolled into one!
Associate Professor Andreas Schreiber from the Centre for Cancer Biology (CCB) said bioinformaticians help identify the root cause of the disease using a new technology called Next Gen Sequencing.
“In order to identify these mutations, the bioinformatician analyses data from sequencing experiments performed with Next Gen Sequencing machines,” A/Prof Schreiber said.
“This produces a hell of a lot of data and the bioinformaticians then work with researchers to identify mutations or targets in the cancer’s pathways and networks.
“The researcher might be interested in finding out which particular mutations are causing their cancer. Or they might be cancerable to find clues about how resistance to drugs is occurring, which they can then use to beat cancer.”
As the first site in Australia to be accredited for this advanced sequencing work, the CCB is also in high demand from clinicians for its expertise in this area.
“It is extremely useful in a diagnostic sense. In the past clinicians would order one test for a particular mutation, and then if it came back negative you’d have to test a different gene,” A/Prof Schreiber said.
“Now we can test the whole genome for mutations all at once, which is extremely helpful for patients and the health sector to help manage treatment.”
Thanks to our generous donors, THRF is helping ease the bottlenecks for these tests by supporting an additional bioinformatician at the CCB.
The role will support Next Gen Sequencing for diseases like leukemia, prostate, breast and brain cancers.
Associate Professor Philip Gregory was grateful for the expertise to progress his ground-breaking work in prostate cancer.
“Our research is aimed at finding drivers of prostate cancer progression and treatments to block their action,” A/Prof Gregory said.
“We used Next Gen Sequencing to identify the Quaking protein which is strongly increased in men with advanced prostate cancer, and we will continue to use it to design therapies that will target pathways controlled by Quaking and reduce prostate cancer progression in patients.”
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