GENE GENIES

Australian scientists lead the development of gene technology that enables earlier diagnosis of childhood diseases. By Jody Scott. Styled by Philippa Moroney. Photographed by Justin Ridler.

194 Australian scientists lead the development of gene technology that enables earlier diagnosis of childhood diseases.

The future is here now, Professor Kathryn North declares matter-offactly, as she describes the revolution taking place in modern medicine. “We used to have to wait for a problem to occur before we would intervene and it was often at a point where it was a lot less effective or cost a lot,” says the director of the Murdoch Children’s Research Institute (MCRI), who is a paediatrician, neurologist and geneticist.

Now, though, the science of genomics is allowing doctors to identify diseases and disorders much earlier, often before symptoms occur, so they can prescribe effective preventative strategies and tailored therapies.

“This is going to transform medicine,” says Professor North. “Genes and environment both play a big role in our risk for disease – it’s nature and nurture combined.”

Medicine is undergoing a seismic shift from providing reactive treatment of problems to proactive prevention and early intervention. And we are only at the beginning of this exciting new era.

“In the future, genomic medicine will allow us to predict and prevent many common conditions, such as diabetes, cardiovascular disease and dementia,” says Professor North.

Perhaps the most radical part of this story is that 30 years ago, the late Dame Elisabeth Murdoch had the vision to invest $5 million in Australia’s first gene research institute, founded by paediatrician and geneticist Professor David Danks, the pioneer of genetics research in Australia.

It was 1986 and hardly anyone outside science circles knew much about genetics. Yet Dame Elisabeth (the mother of Rupert Murdoch, executive chairman of News Corp, publisher of Vogue Australia) passionately believed it was the next frontier in medicine.

“She cared very much about looking after kids when they were sick but she thought that if people could find causes and prevent illness,

“YOU CAN’T HELP BUT BE UPLIFTED AND INSPIRED WHEN YOU WALK THE CORRIDORS”

then that would be even better,” MCRI ambassador Janet CalvertJones has said about her mother’s dedication to the institute.

“It just amazed me they had this vision for the future of medicine,” says Professor North. “In 1986, I had just come out of medical school and only a handful of genes had been discovered.”

To put their foresight into perspective, this was before the Human Genome Project, which began in 1990, taking US scientists 13 years and more than US$3 billion to sequence a human genome (that is, all of the estimated 20,000 human genes) for the first time.

Now, 13 years later, Professor North says they have the capacity to sequence thousands of genomes a year. “The time and cost to sequence a genome is rapidly coming down, everything is happening at a much faster rate than I could have predicted,” she says.

This year the MCRI celebrates its 30th anniversary. And there is much to celebrate. It has become the largest child health research institute in Australia and one of the top five internationally, with more than 1,500 researchers working on gene discovery, disease prevention, early intervention and the development of new therapies to treat sick children. Professor North proudly refers to them as the “rock stars of research” and says they are making a dramatic difference to young lives worldwide.

The MCRI’s impressive list of achievements to date includes developing an oral vaccine for rotavirus that could potentially save the lives of half a million children under the age of five in developing countries every year.

It recently discovered a way to turn human stem cells into kidney tissue, which may allow the use of mini-kidneys to test drugs for the treatment of kidney disease.

A recent pilot study involving the Institute’s new Centre for Genomic Medicine tripled the rate of diagnosis in sick children with rare diseases who previously could not be diagnosed, and enabled doctors to offer them targeted treatments.

Last year, a MCRI team successfully trialled an oral treatment for peanut allergies and more than 80 per cent of the children who received it were able to tolerate peanuts at the end of the trial. More trials are needed, but hopefully it will soon bring relief to allergy sufferers and their families. And there are many other studies underway into a diverse range of areas affecting child health, from rare genetic disorders, cancer, food allergies, immune conditions, autism, cystic fibrosis and juvenile arthritis to adolescent mental health, obesity and sleep problems.

Professor North says MCRI also has the largest concentration of researchers working on global child health problems. “We have 10 different research projects in Fiji and we are working across Vietnam, the Solomon Islands, Papua New Guinea, Africa, Indonesia and Mongolia, very much with a focus on vaccines and prevention and improving the health of children in developing countries,” she says.

An MCRI team recently conducted a mass drug trial in one Fijian community to treat scabies and reduced the prevalence of the debilitating skin condition by 94 per cent. Scabies is a major risk factor for severe heart disease, and this work by MCRI raises hopes that one of most serious health problems affecting the Pacific Islands may soon be eliminated.

Former governor-general and MCRI ambassador Dame Quentin Bryce has just returned from a trip to Fiji with Professor North and other members of the Council of Ambassadors, and said it was inspiring to observe first-hand the difference the Institute is making there.

“Pacific Islander people suffer a range of illness and diseases that occur through disadvantage and overcrowding,” she says. “The dedication that the institute demonstrates to eradication of these diseases saves thousands of lives.”

Dame Quentin says she is passionate about child health and loves listening to the MCRI scientists talk about their work.

“I am one of those non-scientists who’s mad about science,” she says. “I don’t think many people realise that breakthroughs rarely just happen quickly or out of the blue. They are the result of years and often decades of hard work, small incremental steps, unspectacular quiet dedication and slow progress. This is the reality of medical advancement. But if you look at what has been achieved in the last three decades and look at where we are today, it is an incredibly exciting picture.” On the other hand, she says, we have to remember that there are still millions of people around the world who suffer from diseases long gone in developed countries. “In our own Indigenous population we find terrible health issues persisting,” she says. “So while we are advancing in extraordinary ways we must be mindful of the work that has to be done through immunisation programs and other aid projects to assist people in those parts of the world who don’t have the advantages so many of us enjoy. I think the institute is doing a fantastic job of balancing these two important sides of the coin.”

MCRI chair Suzi Carp believes a big reason why the institute has become a global leader in child health is its unique collocation with the Royal Children’s Hospital and the University of Melbourne Department of Paediatrics on a purpose-built, state-of-the-art campus that supports integrated clinical care, research and teaching.

“The diversity and breadth of talent in one place is quite inspiring – you can’t help but be uplifted and inspired when you walk the corridors there,” Carp says.

She says having MCRI researchers work side by side with health professionals and academics at the Royal Children’s Hospital and the University of Melbourne’s Department of Paediatrics enables staff from all three organisations to solve problems together much faster. “All three of us are better off because of it,” she says. “I think that enables so much to go from the lab to the clinic [faster] than if they were in separate locations.”

It also gives researchers closer interaction with children and their families than most medical institutes around the world.

“Gone are the days when you might be diagnosed with something and you might have to go to America to get a therapy,” says Professor North. “Basically, we are now able to bring the latest therapies here and make sure they are available in Australia.”

It’s also reassuring to know that the brilliant minds at the MCRI are also constantly collaborating on research projects with scientists and institutions worldwide, sharing clinical data and trial results to move everyone forward together.

“There is a shared sense of unity and common purpose that every child can grow to reach their full potential at the institute and an absolute commitment and drive to finding the answers,” says Carp. “There is a constant search for new knowledge and ‘what will we discover next?’ Now that is exciting.” MCRI is Vogue’s chosen charity partner for Vogue American Express Fashion’s Night Out.