The NHMRC Research Program in DSD is led by three of the world’s leading research scientists in the area of sex development.


Professor Andrew Sinclair is a specialist in human molecular genetics, particularly in the molecular analysis of patients with Disorders of Sex Development (DSD).

AndrewHis team uses leading-edge genomic analysis technologies for detecting genetic changes in DNA from people with DSD, and analysing the molecular consequences of these changes.

Prof Sinclair has a PhD in molecular genetics, and undertook postdoctoral research in London, leading the team that discovered the human Y-chromosome testis-determining gene SRY. In 1993, he moved to the Department of Paediatrics, University of Melbourne and then to the Murdoch Children’s Research Institute at the Royal Children’s Hospital, Melbourne where he is currently Deputy Director. In 2015 he was elected as a Fellow of the Australian Academy of Health and Medical Sciences. 


Professor Peter Koopman is a developmental biologist, focusing on gonad formation and sex development in mice, as a model for how these processes are regulated in humans.

KoopsHis team identifies genes active during gonadal development, and studies what happens to the developing gonads if these genes do not function correctly.

Prof Koopman has a PhD in Paediatrics and, together with Prof Sinclair, was part of the team that discovered the Y-chromosomal sex-determining gene Sry in London, before joining the Institute for Molecular Bioscience (IMB) at the University of Queensland in 1992. He is editor-in-chief of the journal Sexual Development, and has won a number of national awards for biomedical research. He is a Fellow of the Australian Academy of Science.


Professor Vincent Harley is a molecular biologist with extensive expertise in studying pathways of gene regulation, particularly those involved in human sex determination and DSD.

Vince_pic.jpgHis team is using genetic screens in mice to identify genes with a functional role in gonadal development, and define the molecular mechanisms by which genes participate in normal sex development and hence contribute to variant sex development. Other research interests are sex bias in neurological disease, and genetics of gender identity.

Professor Harley has a PhD in molecular biology, and studied at Imperial Cancer Research Fund Laboratories, London, and Cambridge University, researching the function of the Y-chromosomal sex-determining gene Sry in the early 1990s. He joined Prince Henry’s Institute in Melbourne in 2000, where he is a Senior Research Fellow of the NHMRC.



Last updated: 14 August 2015 PK

Edit history: Author P. Koopman 9/09; revised PK 7/13, 10/13, 7/15