Spermtyping – Single cell analysis of the generation of genetic diversity via DNA repair pathways

Research Opportunity
Honours, Master of Biomedical Science
Number of Honour Places Available
Medicine and Radiology
St Vincent's Institute of Medical Research
Primary Supervisor Email Number Webpage
Dr Wayne Crismani wcrismani@svi.edu.au
Co-supervisor Email Number Webpage
Dr Davis McCarthy

Project Details

Are you different from your brothers and sisters but have the same parents? Why is it that two parents can create children that are genetically unique? The answer is meiosis. We are seeking an enthusiastic bioinformatician or scientist with an interest in genetics and evolution, to uncover how DNA repair pathways regulate generation of diversity during meiosis.

In our bodies, DNA double-strand breaks are incredibly dangerous and must be repaired. Nonetheless, there are natural processes that actively generate DNA double strand breaks in their hundreds during meiosis, to allow genetic recombination, or the reshuffling of genetic material between related chromosomes. This process is tightly regulated by mechanisms that are widely conserved in eukaryotes. We previously showed that mutants of the gene FANCM cause a huge increase in meiotic recombination in plants (eg Crismani et al, Science 2012). A related gene has the same effect in yeast. We have now generated FANCM-deficient mice to determine if the same process governs genetic diversity in mammals. This research has potential implications for our understanding and treatment of infertility in humans.

Your project will take place in a dynamic young team of experts skilled in genetics and single-cell genomics. You will learn and use a diverse set of bioinformatics techniques, which span; single cell sequencing, next generation bulk sequence analysis, haplotype analysis, analysis of recombination frequencies, mouse genetics and general analysis of meiosis. This project will see you develop significant computational novelty. The project will work towards uncovering how the generation of genetic diversity is regulated, and potentially affected in human disease such as certain types of infertility.

The project may be adapted to include some wet-lab experiments if there is a strong desire to do so.

Requirements – a degree in bioinformatics
Preferable – an understanding of molecular biology, particularly genetics.

$5,000 Honours and Masters scholarships are available to a limited number of outstanding candidates. Scholarships are awarded on a competitive basis and at the discretion of St Vincent's Institute of Medical Research.

Background reading
1.Crismani et al 2012. FANCM limits meiotic crossovers. Science
2.Kasak et al 2018. Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. American Journal of Human Genetics

School Research Themes

Child Health in Medicine, Women's Health, Cardiometabolic

Research Opportunities

Honours, Master of Biomedical Science
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.


Medicine and Radiology

Research Node

St Vincent's Institute of Medical Research

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