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Saving sight. Changing lives.

Clinical Genetics

Affiliated with the University of MelbourneUniversity of Melbourne Logo

Lead Researcher: Dr Alex Hewitt

Clinical Genetics specialises in the clinical and genetic analysis of inherited eye diseases.

Current Research

Glaucoma Inheritance Study Tasmania (GIST)

A major area of research is the Glaucoma Inheritance Study Tasmania (GIST) which has been ongoing for almost 20 years. The study aims to identify glaucoma genes and understand the disease pathway. This may enable us to develop new treatments and predict those at greater risk.

Twins Eye Study

This ongoing investigation into the twin cohort aims to identify genes that influence measurements of parts of the eye and determine whether these genes could lead to eye diseases such as glaucoma and myopia. In addition to looking at genetic influences, the study examines environmental factors that influence the eye.

Retinal Dystrophies and rare hereditary eye diseases

In conjunction with the Oculo-Diagnostic Clinic within the Royal Victorian Eye and Ear Hospital (RVEEH), where several of the team also work, we are investigating the genes responsible for inherited retinal diseases such as Retinitis Pigmentosa, familial retinal detachment and other rare hereditary eye diseases such as Leber’s Hereditary Optic Neuropathy (LHON) and Autosomal Dominant Optic Atrophy (ADOA). This will allow for more accurate diagnosis, ensuring appropriate genetic counselling for individuals/families affected with these conditions.

Cataract Inheritance Study

Ongoing investigation of the genes associated with familial cataract, in particular congenital cataract

Strabismus Inheritance Study

Investigation of families and individuals with common and specific subtypes of strabismus (eye turns), eye movement disorders (Duane’s, Brown’s, CFEOM, ADPEO) and ptosis (droopy eye lid).

Norfolk Island Eye Study (NIES)

The Norfolk Island Eye Study (NIES) aims to examine the distribution of eye diseases among descendants of the Bounty Mutineers to improve knowledge of the factors causing eye diseases such as glaucoma and myopia. The study also looks at the effect of exposure to sunlight on eye health.

Collaborations

Clinical Genetics has long standing research collaborations with various national and international groups.