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.
Harnessing Imaging And IT Strategies To Expedite Targeted Treatment And Improve Outcomes In Cerebrovascular Diseases
Funder
National Health and Medical Research Council
Funding Amount
$2,914,215.00
Summary
This project will expand on my 25+ years of research in combining neuroimaging methods such as CT and MRI with nascent software tools to better target and coordinate treatment and achieve improved outcomes in cerebrovascular diseases such as stroke. We will develop & improve new CT and MRI methods and leverage latest advances in computer science, such as deep learning and mobile phone app technology, to achieve faster and more accurate identification of patients who can benefit from treatment.