genomics & personalised medicine

Group leader - Professor David Thorburn

Thanks to new technology and information arising out of the Human Genome Project - the future of medical care is personalised. That is, the ability to predict disease and tailor medical care to an individual, based on their genetic makeup.

Central to this is new genomic technology which today can sequence one person's entire genome in 4 weeks at a cost of $5,000. The progress in technological capability is astounding - sequencing of the first human genome was completed in 2003; it took 13 years and cost $2.6 billion.

But we also need to be able to understand and interpret the reams of information produced by this technology in order to improve health by optimising drug treatment, diet or other environmental modifiers. Each human genome is equivalent to an alphabet soup containing a series of about 3 billion letters. Finding the genetic errors that cause human diseases is equivalent to looking through1000 copies of Tolstoy's War & Peace to find a handfull of typographical errors.

For personalised medicine to become a reality, it needs the interaction of researchers with expertise in specific health conditions, as well as genetics, bioinformatics, ethics, public health and policy development. If these collaborations are successful we will be able to identify the genetic contributors to childhood disease, then treat or prevent symptoms to minimise the burden of disease.

Murdoch Childrens is uniquely positioned to be a leader in developing personalised medicine to improve child health outcomes. We have a history of excellence in genetics, the breadth of researchers and the close collaborations that are needed to identify the questions, do the science, deliver the results, evaluate the outcomes and refine the approaches.