Gene Discovery And Functional Insights For Neurological And Retinal Disorders
Funder
National Health and Medical Research Council
Funding Amount
$2,163,220.00
Summary
Understanding the genetic drivers of disease is key for the development of disease therapies. Determination of the causal genetic variants in a disorder can be used for future diagnosis, prognostication, and personalised treatment. We have previously identified ~20 novel genes and developed new methods providing genomic diagnoses for 1000s of individuals. In the next five years I will make significant advances in our understanding of what causes diseases such as epilepsy, ataxia and dementia.
Saving Sight Through Novel BioTech Innovations For Inherited Retinal Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,534,523.00
Summary
Inherited retinal diseases (IRDs) are the leading cause of blindness in working-aged adults. My work focuses on learning more about IRDs, including the correlation between genes and the degenerative changes in the eye. I am developing new outcome measures to predict who might lose vision faster, and to use in clinical trials. I will then use this knowledge in two clinical trials for new IRD treatments - a gene therapy and an electronic device that is implanted into the eye.
Age Related Macular Degeneration: Novel Ways To Reduce Vision Loss Through Understanding A High-risk Phenotype And Validating A New Early Intervention.
Funder
National Health and Medical Research Council
Funding Amount
$2,156,372.00
Summary
Age-related macular degeneration (AMD) is the leading cause of vision loss in older individuals. AMD eyes with reticular pseudo drusen (RPD) are now recognised as at high-risk of faster progression to vision loss. Identifying the underlying mechanisms driving RPD is crucial for to identify specifically targeted therapeutic options. Validating our subthreshold laser trial, and our early endpoint will offer the first proven intervention to slow AMD progression to vision loss.