Novel gene discovery for childhood cataract

About the research project

Childhood cataract is a rare but devastating disease leading to visual impairment or blindness in children. Hundreds of genes are known to cause isolated or syndromic forms of childhood cataract, and genetic testing is increasingly used to provide accurate molecular diagnosis. This can identify (or exclude) potentially treatable metabolic cataract or more complex syndromes with severe systemic effects. Genetic testing is also vital for determining recurrence risk in families, ensuring accurate genetic counselling, and supporting family planning decisions.

Our group has a major program of research aiming to understand the genetics of inherited childhood cataract and how that information can be used to improve patient outcomes. We house an extensive repository of DNA from Australian families with multiple cases of childhood cataract. We have discovered many new genes and variants that cause cataract, but around half of the families remain unsolved, with no detectable variants in known cataract genes.

This project aims to identify novel genes that cause inherited childhood cataract in these Australian families. It will involve bioinformatics analysis of genome sequencing data in the families, followed by in silico analysis of segregating variants to prioritise candidate genes. Top-ranked genes from one or more families will be evaluated in our zebrafish models, and/or in cell-based model systems as appropriate.

The project can be tailored to suit individual interests but would best suit someone with a background in genetics or molecular biology with an interest in bioinformatics and computational biology. 

Primary supervisor

Meet Professor Kathryn Burdon

Funding

The successful applicant will receive a scholarship which provides:

• a living allowance stipend funded by NHMRC Ideas Grant to Kathryn Burdon of $34,315 per annum for 3.5 years
• a tuition fees offset covering the cost of tuition fees for up to four years (domestic applicants only)

A tuition fee offset may be offered to eligible international applicants following competitive assessment 

As part of the application process you may indicate if you do not wish to be considered for scholarship funding.

Additional Funding

If successful, applicants will also be considered for a Menzies Grant Funded Top-up top-up scholarship of $7,500 per annum for 3.5 years. This scholarship is funded from NHMRC Ideas Grant to Kathryn Burdon.

Other funding opportunities and fees

For further information regarding other scholarships on offer, and the various fees for undertaking a research degree, please visit our Scholarships and fees on research degrees page.

Eligibility

Applicants should review the Higher Degree by Research minimum entry requirements.

Ensure your eligibility for the scholarship round by referring to our Key Dates.

Selection criteria

The project is competitively assessed and awarded. Selection is based on academic merit and suitability to the project as determined by the College.

Additional desirable selection criteria specific to this project:

The project would best suit someone with a background in genetics or molecular biology with an interest in bioinformatics and computational biology. 

Application process

1. Select your project, and check that you meet the eligibility and selection criteria, including citizenship;
2. Contact Professor Kathryn Burdon to discuss your suitability and the project's requirements; and
3. In your application:
   • Copy and paste the title of the project from this advertisement into your application. If you don’t correctly do this your application may be rejected.
   • Submit a signed supervisory support form, a CV including contact details of 2 referees and your project research proposal.
4. Apply prior to 1 October 2026.

Full details of the application process can be found under the ' How to apply ' section of the Research Degrees website.

Following the closing date applications will be assessed within the College. Applicants should expect to receive notification of the outcome by email by the advertised outcome date.

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