Prof John Mattick AO: a genome pioneer who is remaking the world


We’ve all heard of DNA – the very long molecule that stores the genetic instructions for building a living organism – DNA is information. The complete set of aggregated DNA in an organism is called its genome – something scientists are trying to decode to bring a revolution in medicine and healthcare.

Australian molecular biologist Professor John Mattick AO is among many devoted scientists behind the genomics research. He recently relocated from the Garvan Institute of Medical Research in Australia to the UK to take up the position of Chief Executive Officer of Genomics England, .

John began his journey of scientific discoveries after he obtained his BSc with First Class Honours from the University of Sydney and his PhD from Monash University. He developed one of the first genetically engineered vaccines, and pioneered a new understanding of the genetic programming of humans and other complex organisms, amongst other significant contributions that have earned him many awards and recognitions.

John spoke to Advance and shared how the study of genomics is making “a societal revolution”.

Can you briefly describe genomics in layman's terms?

Genomics is the study of all of the information in our DNA.  Genomics is a key underpinning of the development of precision and personalised healthcare, along with information from smart devices.  Understanding our genetic idiosyncrasies and risks will transform the biggest and most important industry in the world, changing healthcare from crisis response to wellness management, a societal revolution.

What's your typical work day look like?

Early start, 6am train from Oxford to London, reviewing overnight correspondence and the day’s papers en route.  Then a mix of time to write documents and correspondence, and meetings with staff, public servants, research and technology experts, other stakeholders, industry and political leaders to develop strategies and partnerships - to deliver on Genomics England’s mission as the custodian of the nation’s genomic data and the provider of trusted analysis of this information for healthcare.  Sometimes professional dinners - long days!

Could you share some interesting facts about genetics and genomes?

There is about 2 metres of DNA inside nearly all cells in our body!  Less than 2% of this DNA codes for the conventional genes that encode the proteins, such as haemoglobin and insulin, that form the functional components of our cells.  Humans have about 20,000 such protein-coding genes, the same number as tiny worms in the soil that only have 1,000 cells (we have about 50 trillion, including a brain with 100 million neurons, each with thousands of connections).  Same number of genes! What’s worse is that most of the genes in humans and worms (and insects, fish and chickens) have the same functions!  So the information that forms a human must mainly lie in the other 98% of our genome.

About 1 in 8 of us will have a serious medical problem in our lifetime because of damage to a protein-coding gene.  Cancer is also caused by genetic damage. The good news is that understanding the nature of the damage allows the risk of disease to be reduced or avoided, and treatments to be far better targeted.  Cancer is on the run.  

What's one of the unresolved questions right now in genomics research?

All features of human biology are determined or strongly influenced by our genetic heritage, but we don’t yet have a good handle on the link between genetic variation and complex diseases, nor how environmental factors interact with these variations to provoke disease, although we do have a good understanding of the damaging mutations in protein-coding genes that cause very nasty genetic disorders such as cystic fibrosis.  This will all change - soon we will have millions of high-resolution genome sequences which, when combined with rich clinical data and physiological information from smart devices, will enable a far better understanding of human diversity and the causes of diseases of ageing such as arthritis and dementia, which in turn will enable us to intercede to prevent such disorders.  The golden age of biomedical discovery is about to begin.

What's your biggest breakthrough you have made in your genomic research?

Showing that most of the human genome is not junk, but rather that it contains another, unexpected form of information that is transmitted by a molecule closely related to DNA - RNA - which organises our genome to express different suites of genes in different cells and tissues during our growth and development.  The human genome is in fact an extraordinarily sophisticated information suite that contains all the instructions for human development and for the protein components of our cells.

Why Genomics is important?

It is the software of life.  Soon enough genomic information - or more accurately, the analysis thereof - will be a standard part of medical records and be used to vastly improve personal health, avoid and better treat disease, and lead to a much more effective and efficient healthcare system.

What do you miss most about Australia? 

The relaxed lifestyle.  The good food and wine.  Body surfing (which I liken to swimming in champagne). Watching rugby with a pie in hand on a Saturday afternoon.