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 Adelaide’s 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 able 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 your donations, ABCR and THRF Group are helping ease the bottlenecks for these tests by supporting an additional bioinformatician at CCB.
This resource will help researchers like Professor Greg Goodall and his team progress his ground-breaking work in breast cancer!
“Next Gen Sequencing, and the bioinformatic analysis needed to make sense of sequence data, are essential components of our breast cancer research,” Prof Goodall said.
“This has led to our discoveries of gene products that are linked to breast cancer metastasis and could ultimately open up new avenues for treatments. Our initial publication on this has been cited in over 250 papers this year alone!”