Epigenetics

New Frontiers: Epigenetics – going boldly where no-one has gone before

Discovering new frontiers in medical science means exploring uncharted territory – stepping out where no-one has gone, or thought to go, before. In the hot area of epigenetics, the research risk factor – moving into the unknown, being originally creative and asking crazy questions in the search for new knowledge – is par for the course according to Professor Emma Whitelaw.

Epigenetics is the study of processes that modify the structure of DNA, changing gene expression without influencing the DNA base sequence.

Professor Whitelaw describes her research in the field of epigenetics as “a relatively new area that builds on our comprehensive knowledge of genetics. In many cells, certain genes are ‘on’ and some are ‘off’,” she explains. “Epigenetics describes what makes a gene turn on or off at a molecular level. We are finding new rules that govern the way that DNA behaves in different cells and different people.”

Whitelaw says epigenetics is exciting because there is so much we don’t know. “Almost every week new data comes out that I find surprising,” she says. “Epigenetics is becoming a very hot area of research because it will potentially open up new ways of treating disease.”

Professor Whitelaw, who currently leads epigenetics research at the Queensland Institute of Medical Research and is world renowned in her field, showed a very early interest towards her future specialisation. Aged eight, growing up in Canberra, she was given a pregnant rat for a pet and produced a book with drawings of the mother and her litter from above and below, recording their coat colours and markings. This childhood project led to an enduring interest in biology, a tendency to classify and a love of organisation. “I always took pleasure in biology and I still have the little book,” she says. “My parents were not scientists so I’m not sure where it came from… it seemed destined.”

Years later, as a young research scientist, Whitelaw went to work on how genes are regulated. She was inspired by a speech given by one of the first scientists to create transgenic mice – a technology that allows genes to be added to the genome of a living organism, modifying them permanently. Whitelaw saw this as a powerful way of understanding what genes do, how they switch off and on and how they influence behaviour and physical traits. With the support of the Director of the school, she purchased a microscope worth half a million pounds and undertook a course at Cold Spring Harbour in New York, USA, learning how to inject DNA into mouse ova. She then began creating transgenic mice, establishing a fully functional transgenics facility at the University of Oxford. On returning to Sydney, Emma continued her transgenic research. Unexpectedly, she observed that the injected genes were not always being switched on, although the DNA remained intact. This led to the exciting discovery of what is now known as epigenetic gene silencing, a phenomena known in other organisms, but until then, not believed to occur in mammals.

Today, Whitelaw is still challenging what we know in the search for what we don’t. She is currently working to discover more about the way in which our DNA is packaged into chromosomes because she believes these mechanisms are essential for development and may play roles in preserving our DNA from the damage that causes cancer. The answers, she suggests, come from exploring unusual hypotheses.

“Day to day, I like thinking about and then asking the big (my staff would say crazy) questions and find it immensely satisfying when these answers change the way we think about biology,” she insists. “I believe it’s also important for me to train young and mid-career scientists to take risks and to ask big questions.”

Professor Whitelaw believes working in Australia is an advantage when taking this provocative approach to research. “Our culture encourages questioning and challenging those in authority from an early age,” she says. “We are a small country with a small GDP, so Australia’s edge must come from our innovation.”

This article was originally published in Australian Health and Medical Research – Working to Build a Healthy Australia.