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Scientists take data approach to beat disease

Computer scientists, mathematicians and geneticists are joining forces across Australia to improve the lives of thousands of sufferers of conditions ranging from epilepsy to prostate cancer.
By · 14 May 2013
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14 May 2013
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Computer scientists, mathematicians and geneticists are joining forces across Australia to improve the lives of thousands of sufferers of conditions ranging from epilepsy to prostate cancer.

New advances in the emerging field of health bio-informatics (also known as computational biology) are giving clinicians the ability to fight diseases more accurately by combining advanced computer hardware and programming with genetic sequencing tools.

These tools are being used at the Murdoch Childrens Research Institute (MCRI) at the Royal Children's Hospital to sequence the entire genome of patients to identify the source of ailments including epilepsy, heart disease and neuromuscular conditions.

MCRI's associate director, Professor Andrew Sinclair, says it is difficult to determine the exact cause of these conditions, as often the underlying cause can be a single gene.

"In the past we had to guess and sequence one gene at a time," Professor Sinclair said. "New technology allows us to not just sequence one gene or a couple of genes, but all the genes in a patient at once."

The task is made all the more daunting given that a patient's genetic make-up contains 3 billion bits of data. With this in mind, Professor Sinclair said MCRI had built up a team of specialist mathematicians and computer scientists who could create algorithms that quickly sequenced genes and compared them with the human genome map to find mutations.

"What we want to do is ramp this up now as a diagnostic approach for a whole range of different conditions that we see here," he said. "What that is going to do is generate a huge amount of data, and what we have to do is store that."

For that reason MCRI recently called in integrator Thomas Dureya to install an additional 97 terabytes of storage, on top of its existing 67 terabyte capacity.

Numerous other efforts in health bio-informatics are taking place around Australia, as part of a $1 billion global research effort.

NICTA's Victoria Research Laboratory, for instance, is involved in three programs related to treatment of cancer and other conditions, including better treatment of the one-third of cancers whose original source is unknown.

Postdoctoral researcher Geoff Macintyre said these so-called carcinomas of unknown primaries were among the top 10 most common causes of cancer-related deaths.

Another project is categorising the aggression of prostate cancers to determine better courses of treatment. A third looks at associations between mutations causing diseases.

Dr Macintyre said projects such as these required combinations of skills in mathematics, computer science and statistics, as well as geneticists and molecular biologists.
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