Unravelling the genetic cause of Premature Ovarian Insufficiency

Research Opportunity
PhD, Honours
Number of Honour Places Available
1
Department
Paediatrics
Location
Royal Children’s Hospital/Murdoch Childrens Research Institute
Group Leader Email Number Webpage
Doctor Elena Tucker elena.tucker@mcri.edu.au 83416426
Primary Supervisor Email Number Webpage
Professor Andrew Sinclair andrew.sinclair@mcri.edu.au

Project Details

Premature Ovarian Insufficiency (POI), affecting as many as 1 in 100 women, is a form of female infertility characterised by lack of menstruation and menopausal hormone levels before the age of 40. In some cases, young girls fail to get periods altogether and learn they have this menopause-like condition in early adolescence. POI not only interferes with a woman’s reproductive potential, but is also associated with an increased risk of osteoporosis, mental health problems, cardiovascular disease, and earlier death. Ample evidence indicates the genetic basis of POI, however, its genetic cause is complex with implicated genes having roles in various cellular processes. The majority of cases remain unexplained, limiting appropriate treatment and management of affected individuals.

We have DNA from the largest described cohort of women with POI (N>100), and we are using the latest genomic technologies to identify novel causes of the condition. Sequencing data is mined for pathogenic gene variants and functional experiments performed to prove causality. This involves techniques such as western blotting, gene expression assays, qRT-PCR and immunofluorescence staining in control and patient cell lines.

This project has already revealed some exciting new candidate genes involved in POI. The project contributes to better treatment and counselling of affected individuals, as well as enabling the identification of family members before symptoms arise. This can allow early intervention such as cryopreservation of eggs and hormone-replacement therapy to minimise co-morbidities. Discovering new “disease genes” improves understanding of the process of ovarian biology, which can then enable the development of therapeutics which are largely lacking for this condition.



Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine, Ageing, Women's Health



Research Opportunities

PhD, Honours
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.

Department

Paediatrics

Research Node

Royal Children’s Hospital/Murdoch Childrens Research Institute

MDHS Research library
Explore by researcher, school, project or topic.