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Genetic testing for childhood cataract


   Menzies Institute for Medical Research

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  Prof Kathryn Burdon  No more applications being accepted  Competition Funded PhD Project (Students Worldwide)

About the Project

About the research project - https://www.utas.edu.au/our-research/research-degrees/available-projects/health-and-medicine/area/menzies-institute-of-medical-research/genetic-testing-for-childhood-cataract

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.

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.

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

After checking and ensuring that you meet the eligibility and selection criteria contact the project supervisor.

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