Genetic testing for childhood cataract

Improving genetic testing for paediatric cataract — functional analysis of associated variants

Degree type

PhD

Closing date

29 October 2021

Campus

Hobart

Citizenship requirement

Domestic/International Onshore

About the research project

Cataract is an opacity of the usually transparent lens in the eye that is responsible for focusing light onto the retina. It is a common cause of treatable visual impairment in older adults. When it occurs in children it is challenging to treat and many patients experience lifelong visual deficits or blindness. Many cases of childhood cataract are genetic and we know of over 60 genes that lead to cataract formation. Genetic testing in affected children and their families is an important part of the diagnosis and management of childhood cataract. However, in many cases the genetic tests are inconclusive because we don’t know enough about each specific variant and the effect it has on gene function or cataract formation. This project will seek to develop and perform moderate throughput functional assays for variants detected in cataract causing genes in childhood cataract patients with the goal of determining which ones are disease causing and which are not. The initial focus will be cell culture models assessing Gap Junction function and mini-gene assays for potential splice altering variants in a variety of genes. The project is part of a larger program of work aiming to discover and characterise genes and variants that cause childhood cataract and translate the findings into clinical care. There is scope for the project to extend into novel gene and variant discovery or characterisation with a strong emphasis on bioinformatics analysis or using zebrafish to model the effects of altering candidate genes on cataract formation.

Primary Supervisor

Meet Prof Kathryn Burdon

Funding

Applicants will be considered for a Research Training Program (RTP) scholarship or Tasmania Graduate Research Scholarship (TGRS) which, if successful, provides:

  • a living allowance stipend of $28,597 per annum (2021 rate, indexed annually) 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)

If successful, international applicants will receive a University of Tasmania Fees Offset for up to four years.

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

Eligibility

The project is open to domestic (Australian and New Zealand) and international applicants who are already in Australia (onshore) at the time of submitting their application.

Due to current Australian COVID-19 travel restrictions the University cannot accept applications from international applicants who are currently overseas.

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

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.

Application process

There is a three-step application process:

  1. Select the project, and check you meet the eligibility and selection criteria;
  2. Contact the Primary Supervisor, Prof Kathryn Burdon, if you have any questions about the project; and
  3. Click here to submit an application by the closing date listed above.
    • 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.
    • As part of your application you will be required to submit a covering letter, a CV including contact details of two referees and your project research proposal.

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

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