Mining your genes

Geneticist Professor Rodney Scott and computer scientist Professor Pablo Moscato come from disparate academic backgrounds, but they share a common purpose. The leading researchers are blending their respective knowledge with the aim of making personalised medicine a reality.

Scott and Moscato are co-directors of the University of Newcastle's forward-thinking Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine. As one of only two research sites  in Australia that directly link bioinformatics with clinical research practice, it is at the forefront of the emerging field of developing patient-tailored treatments based on genetic analysis.

Both researchers bring considerable expertise to the collaboration. Scott has been working in the field of hereditary diseases for 20 years, and has attracted global recognition for his genetic research, particularly in the areas of breast and bowel cancers.

Moscato began his influential work in computer science in the late 1980s as a member of the Caltech parallel computing group – supercomputing pioneers based at the California Institute of Technology. While there, he developed in collaboration with another researcher a computer optimisation strategy known as a memetic algorithm, now widely used in computation-based applications in many areas of Science and Technology.

What has drawn them together is the need for more efficient ways of processing and appropriately interpret the mass of genetic research data being collected by medical researchers. Working alongside this is the tantalising prospect of being able to use computer profiling technology to customise treatments for individual patients.

"Since I have been working in genetics there has been an explosion of knowledge and huge advances in the technology that can be used to identify risk factors associated with disease," Scott says.

"Technology allows us to acquire a huge amount of data but a bottleneck is created by the analysis, because there is physically so much data to sift through.

"Bioinformatics is providing a mechanism whereby we can reduce the complexity of research data, manage it and interpret it."

Scott and Moscato first collaborated in 2006 when Moscato applied his statistical and computational skills to analysing data associated with the rare genetic disorder xeroderma pigmentosum, a trigger for childhood skin cancer. Scott was impressed with the results and the University, recognising the potential for this valuable interdisciplinary research, approved the investigators' request to set up the centre.

University medical and bioinformatics researchers have since successfully worked together on the interpretation of genetic data relating not only to cancer but a range of conditions including stroke, multiple sclerosis, macular degeneration, Alzheimer's Disease and lung disease.

"When I came to the University in 2002 there was a lot of strength on the clinical side of medical research but not a lot of work underway in bioinformatics," Moscato says.

"I established the Newcastle Bioinformatics Initiative with the support of the university in 2002. On my lead, and with ARC support, Newcastle has been the only NSW node of the ARC Centre of Excellence in Bioinformatics since 2003.

"Now, in some areas, particularly in supercomputing based approaches to interrogate these datasets, we are clearly leading this research field in Australia."

Moscato is pushing the boundaries of molecular interrogation techniques, looking for ways to provide more sophisticated information, including a forensic analysis of data that seeks to explain, rather than dismiss, even minor statistical anomalies. He has developed a method based on Information Theory to track the progession of cancer and Alzheimer's Disease in the brain.

"It is a unifying theory, the Entropic Hallmark," he says.

"A medical researcher can come to us with data that contains a number of variables and our methods are able to highlight the possibilities," he says. "We seek to open new working hypotheses, rather than just give a straightforward reading of the data."

For example, detailed analysis of data over a number of years by his team has led to the identification of what they believe to be the 'genetic signature' of two new subtypes of breast cancer.  If validated, the research could lead to new approaches to treatment.

The "final quest", Moscato says, is personalising medicine.

"With cancer, for instance, we are moving away from the approach that there is a silver bullet cure," he says.

"There are thousands of drugs that can be used to treat cancers. That presents a huge number of possible combinations for treatment. Only with sophisticated computer analysis can you screen all of the combinations according to a patient's specific gene characteristics."

Scott picks up the theme: "What we are aiming to achieve is user-friendly programs that can be applied at the clinical level; programs that will efficiently and effectively analyse the data and deliver meaningful information describing a person's risk factors and suggesting optimal treatment."

Professor Rodney Scott and Professor Pablo Moscato research in collaboration with the Hunter Medical Research Institute's (HMRI) Information Based Medicine Program. HMRI is a partnership between the University, Hunter New England Local Health District and the community.

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