Cell behaviour is controlled by the cells’ genetic material, made up of DNA. Genomics is the study of the entire DNA content of a cell or organism (its genome).

Our researchers are using genomics to better understand how diseases develop, and to discover new ways to diagnose and treat disease.

Genomics research at the Institute

Our genomics researchers are:

• Generating and analysing the genome sequence of diseased cells and disease-causing microbes to understand their function.
• Developing strategies that use genomic information to improve disease diagnosis and treatment.
• Discovering how genes work together in health and disease.

The Institute is a founding member of the Melbourne Genomics Health Alliance, which aims to integrate genomic medicine into everyday healthcare for the benefit of patients.

What is genomics?

All cells contain genetic information, made up of the molecule DNA. DNA provides instructions, called genes, that direct the production of proteins. Other DNA within cells controls how genes are used by different cell types and at different times. DNA is composed of a sequence of ‘bases’ that function like letters of the alphabet to spell out the genetic instructions. The human genome is made up of three billion bases.

Genomics is the study of the many genes and other DNA sequences within the cells, how they function, and how they interrelate.

Differences in the structure and/or sequence of the genome influence a cell’s behavior and explain some of the differences between cells. For example, a diseased cell’s genome may differ from a healthy cell. Such differences may also explain why two diseased cells respond differently to a treatment. Genomics can also reveal similarities between cells. For example, two parasite species may share genes that make them susceptible to the same treatment.

Genomics research involves establishing the sequence of DNA in a genome, and understanding its function or effect. It also reveals differences in different cells’ genomes that are associated with different behaviours.

Genomic techniques

Important aspects of genomics research include:

• Sequencing: determines the particular order of the bases that make up the DNA. Genome sequencing technology needs to be fast and accurate. So-called ‘next-generation sequencing’ technologies are an important part of our genome sequencing research. The Institute’s Genomics Hub houses our next generation sequencing infrastructure.
• Gene expression analysis: determines which parts of the genome a cell is using. Production of a certain protein depends on its corresponding gene being switched on. Epigenetics studies factors that switch genes on or off.
• Genome comparison: reveals similarities and differences between different genome samples. This can be linked to similarities and differences in how cells or organisms behave. Bioinformatics and systems biology are important parts of genome analysis.