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Molecular Development

Development of the gonads (testes or ovaries) requires the coordinated functioning of many genes and proteins. A breakdown at any point in this complex developmental pathway may lead to a child of uncertain sex. Children with intersex disorders occur one in every 4,500 births and are a major paediatric issue.

Our research focuses on sex determination, and aims to understand how genes control gonad development. This knowledge will improve the care of intersex children, and will provide insights into diseases that affect this and other organ systems.

Research overview

We investigate the genetic mechanisms that control development of a normal (and abnormal) testis and ovary. These studies increase our understanding of how organ development is controlled at the molecular level, and will ultimately provide improved diagnostic tests.

We have identified over 100 genes with a potential role in gonad development. We are analysing the function of these genes to establish their effect on testis or ovary development. The interactions between these genes and other proteins are being explored in an effort to piece together the jigsaw of gonad development.

Another major project focuses on the role of the SOX family of developmental genes in human genetic disorders. Already three members of this family (SRY, SOX9 and SOX10) have been shown to be critical in embryonic development, and to cause particular genetic syndromes when mutated. Furthermore, in recent years there have been several cases where mutations in genes involved in regulating specific developmental processes have been identified as the cause of defined human genetic disorders.

Professor Andrew Sinclair
Molecular Development
Murdoch Childrens Research Institute
3rd Floor Main Building
Royal Children's Hospital
Flemington Road
Parkville Victoria 3052
Australia
T   +61 3 8341 6424
F   +61 3 8341 6429
E   andrew.sinclair@mcri.edu.au