Disorders of sex development, infertility and testicular cancer

Disorders of sex development, infertility and testicular cancer

Our research focuses on genes that regulate sex development—the molecular process that determines whether an embryo develops as a male or a female—and finding how problems with these genes can cause intersex, infertility and testicular cancer. 

We are studying SRY, the Y-chromosome maleness gene, and how it controls the genetic and cellular events leading to testis development and male sex determination.

We also use molecular genetics tools to identify other sex development genes and to study how these affect sex development, using transgenic and gene-knockout mice to answer questions about gene function.

Ultimately, we hope this research will help us to better understand the causes of human disorders of sex development, which affect up to 1 in every 250 children born each year, so that these disorders can be diagnosed more accurately and managed more effectively.

More broadly, the study of embryo development provides insight into mechanisms of disease, including cancer, and provides a molecular and cellular basis for new molecular diagnostics and targeted therapies.

MRKH Study

One specific project involves studying the genetics behind the rare condition Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

To help us and our collaborators at the Murdoch Children's Research Institute identify gene mutations associated with this syndrome, we are recruiting women with MRKH and their families to provide blood samples from which we can extract and analyse DNA.

To indicate your interest in being part of the study, please fill out this form.

Research projects

To enrol in the MRKH study, please visit https://form.jotform.com/80528831568970 

Research training opportunities

Research title: Sex determination, gonadal development and disorders of sex development

Summary of research interests: We discover genes involved in the development of cells, tissues and organs in the embryo, and study their activity, regulation, function and interaction, using mice as an experimental model. Much of our work centres on the genetic pathways that regulate sex determination and gonadal development. We use a number of gene discovery strategies to identify novel candidate genes, analyse expression of these genes during gonadal development to identify the cell type and temporal profile of expression, perform in vitro experiments to determine the molecular mechanisms of the encoded proteins and where they act in the sex-determining pathway, and perform functional analysis in vivo by overexpression in transgenic mice and/or CRISPR/Cas9 gene editing in mice. This work is applied to understanding, diagnosing and managing the molecular defects that can result in atypical sex development in humans, sometimes called intersex or disorders of sex development.

Traineeships, honours and PhD projects include

  • Identification and functional study of sex-determining genes
  • Disorders of sex development.

Contact: Professor Peter Koopman

+61 7 3346 2059

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Prof Peter Koopman

Professor Peter Koopman

Group Leader, Genomics of Development and Disease Division

  +61 7 3346 2059  
  IMB Researcher Profile

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