Scientists take data approach to beat disease
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.
Frequently Asked Questions about this Article…
Health bio‑informatics, also called computational biology, combines advanced computer hardware and programming with genetic sequencing tools to analyze patient genomes. According to the article, this approach lets clinicians find disease-causing mutations more accurately and faster than sequencing one gene at a time, improving diagnosis and treatment planning.
MCRI is sequencing entire patient genomes to identify the source of conditions such as epilepsy, heart disease and neuromuscular disorders. Professor Andrew Sinclair explains that new technology allows the team to sequence all genes at once instead of guessing and sequencing one gene at a time.
A single patient’s genetic make‑up contains about 3 billion bits of data, creating a large storage challenge. The article notes MCRI increased capacity by calling in integrator Thomas Dureya to install an additional 97 terabytes on top of its existing 67 terabytes to store sequencing results and related data.
Australian teams are applying bio‑informatics to a range of conditions, including epilepsy, heart disease, neuromuscular disorders and various cancers. NICTA’s Victoria Research Laboratory is working on programs for carcinomas of unknown primary, categorising prostate cancer aggression, and studying associations between disease‑causing mutations.
The laboratory is involved in three programs: improving treatment for cancers whose original source is unknown (carcinomas of unknown primaries), categorising the aggression of prostate cancers to guide treatment, and investigating associations between mutations that cause disease.
The article highlights the need for interdisciplinary teams made up of computer scientists, mathematicians, statisticians, geneticists and molecular biologists. These combined skills are essential to build algorithms, analyse large genomic datasets and interpret results for clinical use.
By sequencing all genes at once and using algorithms to compare patient genomes with the human genome map, clinicians can more quickly identify mutations that cause disease. The article says this diagnostic approach can be ramped up across many conditions, enabling more accurate diagnoses and tailored treatment decisions.
The article states numerous Australian projects are part of a $1 billion global research effort, signalling strong international support for bio‑informatics. For everyday investors, that means continued research activity in Australia and increased demand for genetic sequencing tools, data‑storage solutions and computational expertise—areas highlighted in the article as central to current work.
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