Differences of sex development (DSDs) are a complex group of conditions that affect an alarming 1.7% of babies. For affected individuals early and accurate genetic diagnosis is of critical importance for optimal clinical management which includes endocrine, reproductive, cancer, surgical and psychosocial care. Currently 60% of DSD patients will receive a negative or uncertain genetic result.

This student project aims to identify new genetic causes of DSD using whole exome and genome sequencing from undiagnosed patients. Bioinformatics tools will be used to prioritise rare, likely pathogenic variants in patients and families. Selected candidates will be studied using molecular techniques such as qPCR, Western blotting, and reporter assays in cultured cell lines. The student will also use induced pluripotent stem cells (iPSCs) and CRISPR editing to model gene function during gonadal development using our unique gonadal organoid models.

Skills Gained

Genomic data analysis and variant interpretation
Molecular cloning and gene expression studies
Cell culture and stem cell differentiation techniques
Functional genomics using cell culture and reporter studies.

If you are interested in this PhD project, send an email to Associate Professor Katie Ayers (katie.ayers@mcri.edu.au) explaining why you would like to be considered for this opportunity and how the project fits with your experience and interests. Make sure to attach your CV and transcripts to the email. Only enquiries sent via email will be considered.

Katie Ayers

Clinical (Associate Professor)

Department of Paediatrics

Katie Ayers

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Faculty of Medicine, Dentistry and Health Sciences

Katie Ayers

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