Australia Research Offers Hope for Children of Uncertain Sex
Pioneering Australian research is offering hope to children born with sexually ambiguous genitalia and other sexual development conditions and Professor Peter Koopman, Institute for Molecular Bioscience, University of Queensland, will today be awarded the GlaxoSmithKline Australia Award for Research Excellence in acknowledgement of his groundbreaking work in this area.
“It is usually the first question new parents are asked – is it a boy or a girl? But when it is not possible to determine a baby’s sex it is upsetting for families and raises questions about whether to assign a gender immediately or wait until a child gets older. These conditions are common, almost always traumatic for the families involved and require significant healthcare resources through corrective surgery, hormone therapy, psychological support and other related treatments,” said Prof Koopman.
Following his discovery of SRY, a gene which sets an embryo down the pathway of male development, Professor Koopman has made a number of discoveries relating to how we become male or female, which have implications for intersex conditions as well as testicular cancer.
“My work is essentially a study of how testes or ovaries develop in the embryo. The genetic controls that underpin development are complex and the pathway often breaks down, which can result in a broad spectrum of intersex conditions including a child of uncertain sex,” he added.
Identifying the genes involved in this process and understanding how they work is the first step in understanding what happens when the process breaks down.
Tony Briffa, of the Melbourne-based Androgen Insensitivity Syndrome (AIS) Support Group Australia, and Genetic Support Network of Victoria commented on the award, "The AIS Support Group Australia congratulates Professor Peter Koopman on his award, and encourages more researchers to consider the human aspects of genetic conditions. Intersex conditions result in considerable difficulties for families and are more common than most people think. Sexual identity issues, sexual dysfunction, infertility, body image, cancer, osteoporosis and social difficulties are all likely consequences.”
“This research increases our understanding of sexual development and has the potential to improve outcomes for people with these conditions," he added.
Professor Koopman’s discovery that sex determination in mammals hinges on the action of Y-chromosomal gene, SRY, helped him breed ‘transgenic’ mice. The SRY gene was added to an XX genome (which would normally develop as female) and the resulting mice were born male.
This experiment also showed that SRY does not act alone, but rather initiates a cascade of genetic steps that leads to the formation of the testes. This led to the discovery of another gene, Sox9, which acts downstream from SRY in the sex determining pathway. Unlike SRY, which is found only in mammals, Sox9 is likely to be the universal regulator of male sex determination in all animals that have a backbone or spine.
Recently Professor Koopman has been working to understand the complex developmental networks within the gonads that tell cells whether to become sperm or eggs. It is believed that these signals going awry may be a trigger for testicular cancer.
Commenting on the Award, Mr Paul Lirette, Managing Director, GlaxoSmithKline Australia, said the company is committed to supporting innovation, research and development for the wellbeing and economic benefit of all Australians.
“The GlaxoSmithKline Award for Research Excellence is awarded annually in recognition of distinguished discoveries in scientific and medical research which have the potential to lead to significant benefits in human health. Professor Koopman is a deserving winner of the award as his pioneering work has the potential to improve human health in a number of important areas including sexual development, fertility and oncology” said Mr Lirette.
Future challenges for Professor Koopman and his team include searching for other genes important for male sex determination and testis development and learning more about the development of the ovaries, “We aim to find genes and to deduce how and where they fit into the regulatory network. Ovarian development has remained mysterious despite big advances in the study of other tissues. We aim to shed light on the genes that regulate the early development of the ovary too.”
Professor Koopman summarised his feeling on winning the award, saying “A major motivator for me is to be involved in work that makes a real difference to people’s lives. Research is a painstaking process but the belief that my work will benefit people is what makes keeps me so passionate about it. It is an honour that these efforts are to be acknowledged by way of such a prestigious award.”
Recipients of the GlaxoSmithKline Award for Research Excellence receive an honorarium of $50,000 to acknowledge their discovery and contribution to science and help further their work. The Award is regarded as one of the most prestigious within the Australian research community. A requirement of the Award is that the majority of the research is undertaken in Australia.