Identification Of New Genes That Cause Disorders/Differences Of Sex Development

Research Opportunity
Royal Children’s Hospital/Murdoch Childrens Research Institute
Primary Supervisor Email Number Webpage
Professor Andrew Sinclair +61383416424 Personal web page
Co-supervisor Email Number Webpage
Dr Katie Ayers +61393454357 Personal web page

Project Details

Often the first question asked when a child is born is "is it a boy or a girl". Unfortunately, a definitive answer cannot be given to the parents of a child born with severe ambiguous genitalia. These cases occur with a frequency of 1 in 4500 births and are part of a large spectrum of disorders known as Disorders/Differences of Sex Development (DSD), which are caused by mutations in the genes that regulate how the testis or ovaries develop and function. Yet, less than 50% of patients with DSD currently receive a clinical genetic diagnosis, due to a poor understanding of the genes that can cause DSDs. This project will use genomic technologies such as Whole Exome Sequencing and targeted microarrays to find novel candidate genes that may cause DSDs. In this project, you will analyse DSD patient sequencing data for potential pathogenic gene variants in an effort to identify novel candidate genes. These genes will then be validated using lab technologies such as immunofluorescence staining on embryonic gonads and qRT-PCR. This work will uncover novel genes that contribute to DSD in humans and improve diagnosis rates for patients with these difficult disorders.

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine

Research Opportunities

Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.



Research Node

Royal Children’s Hospital/Murdoch Childrens Research Institute

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