Functional assessment of variants of uncertain significance in genes that cause 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. A current challenge in the field is the interpretation of genetic tests for known cataract genes. There are hundreds of rare variants in these genes. Most are so rare there is not enough evidence to decide if they cause cataract or not.

This project will develop and apply functional assays to assess the biological effects of variants of uncertain significance in cataract genes. The assays will be assessed for their ability to differentiate between pathogenic and benign variants before being applied to unknown variants. The initial focus will be on gap junction genes, using dye uptake and dye transfer assays in transfected mammalian cells to determine the effect of the variant on protein function. The project could expand to include other genes or gene families, or to improving the throughput of validated assays using automation, or alternative methodologies.

The project will require a strong background in molecular or cell biology and human genetics. Experience with cell culture and/or protein chemistry would be an advantage.

Primary supervisor

Meet Doctor Johanna Jones

Funding

The successful applicant will receive a scholarship which provides:

• a living allowance stipend funded by University of Tasmania of $34,315 per annum for 3.5 years
• a relocation allowance of up to $2,000
• 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 receive 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 will require a strong background in molecular or cell biology and human genetics. Experience with cell culture and/or protein chemistry would be an advantage.

Application process

1. Select your project, and check that you meet the eligibility and selection criteria, including citizenship;
2. Contact Doctor Johanna Jones 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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