Making things better

Prof Bob Williamson's involvement in genetics goes back to a time when few people understood the possibilities of the science.

The current director of the Murdoch Childrens Research Institute (MCRI) says that back in the early 1960s only four or five research groups were involved in the field.

"When I started in 1959 everyone said I was crazy to even work in human genetics," Williamson said.

"The really exciting thing for me has been to watch human molecular genetics develop over the past 40 years from a field everyone thought would not work into a field dominating medical science."

These days, most people know what genes and DNA are, thanks to the Human Genome Project and subsequent public debates over the ethics and potential outcomes of the research.

So it is hard to imagine that just 40 years ago scientists such as Williamson could not even perform gene experiments because of the lack of necessary technology.

It was Williamson's work at St George's Hospital Medical School, St Mary's College, University of London, that made massive inroads towards popularising genetics and demonstrating its potential for human medicine.

By cloning the human globin gene in the late 1970s, Williamson's group also identified the concept of genes contributing to a person's specificity.

"From my point of view, I think one intellectual contribution I made was to recognise very early that cloning human genes enabled us to look at an individual by comparing the inheritance of those genes with individual phenotypes," Williamson said.

"I think of that as my main, and perhaps only intellectual contribution; and from that concept came attempts to define mutations as causing complex diseases."

He has uncovered the mutations that cause thalassaemia - a genetic form of anaemia in which affected individuals cannot properly synthesise haemoglobin - and helped set up a specialised clinic in Cyprus, which has a high incidence of the disease.

Williamson has also made contributions to gene localisation for muscular dystrophy and cystic fibrosis, as well as identifying the first mutation causing inherited Alzheimer's disease.

He has worked at Johns Hopkins, Columbia University in New York, and the Institut Pasteur in Paris, and has received such awards as the Wellcome Medal of the Biochemical Society and the King Faisal Gold Medal for Medical Research.

He led a project on the ethics of patenting the human genome for the European Union and served on the UK Government's genetic manipulation advisory committee from 1976 to 1988.

In 1995 he became director of the MCRI and was also appointed Professor of Medical Genetics at both Melbourne and Monash Universities, the latter being an honorary chair.

Williamson said he had always considered the junction of genetics and environment a "fascinating and delightful" area, and was interested not only in the discoveries, but also the applications.

"I have always been fascinated by the interface between hard sciences - physics and chemistry - and the variation in human kind as expressed by disease and also in normal variations such as height and intelligence," he said.

"I am very, very pleased to have been able to define not only genes mutated in thalassaemia, cystic fibrosis etc, but to help develop a paradigm of delivery of services to patients and communities where these conditions exist."

In addition to breaking new scientific ground and applying it clinically, Williamson is passionate about the need to communicate findings to the lay public.

When he was a child during WWII, Williamson says, medicine and science were automatically accepted as positive and beneficial.

But since the advent of the atom bomb, the fields tend to be treated with distrust and disrespect.

"Although I don't believe that scientists are the cause of this, I think the fact so many scientists don't participate in public debate and talk to fellow citizens about what they do in ways people can understand is certainly a major problem for the community," he said.

Williamson said that while the fruits of genetic medicine were unlikely to be plucked for decades, it was vital the public was made aware now of how deeply scientists believed in the potential benefits.

"I care about the common good more than I care about anything else in the world, so I see it as an obligation to make this clear to the community," he said.

"If we don't do it, we're failing in our duty and risk alienating the community from us."

As Williamson prepares to step down from his directorship next year, he hopes that he might find a role in public policy.

He said that while he loves science now just as much as he did the day he started, he was tired of running institutes and hoped to have more time to focus on his fascination with genes and environment.

Despite an already distinguished career, Williamson said he would love to see the first steps taken towards cellular therapies to treat inherited diseases.

"Everything I have done in research has been directed towards making things better for people, but there is such a long way to go to deliver its potential," he said.

"We should be living in a society where no child suffers from serious disease, and where health outcomes get better and better for people throughout their whole of their lives.

"I think at the moment we still have too many sick children and the challenge is to use all of these wonderful sciences to make them better."