Genetics Of Epilepsy: Completing Our Understanding
Funder
National Health and Medical Research Council
Funding Amount
$3,000,000.00
Summary
Finding genetic causes of epilepsies is vital for accurate diagnosis and family counseling, to optimize current treatments and to develop novel therapies. We will leverage our large collection of carefully evaluated Australian cases with international data sets, coordinated by Consortia that I chair, to develop a detailed understanding of the genetic causes of epilepsy. This will transform the use of genetics in the clinic, lead to better immediate treatment and aid in developing novel therapies
Circular RNAs As Genome Destabilisers In Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$2,163,220.00
Summary
Mutation of genes are hallmarks of both cancer and neurological disorders. My research group has identified roles for circular RNAs in both these processes. Now, we must close the loop by investigating the mechanism of these processes. This will inform not only why these genes are commonly mutated, but by exploiting the highly stable circular RNAs they may provide early prognostic/diagnostic biomarkers and even represent novel therapeutic targets for cancer and Huntington’s disease.
Developing Interpretable Machine Learning Models For Clinical Imaging And Single-cell Genomics
Funder
National Health and Medical Research Council
Funding Amount
$1,312,250.00
Summary
Machine learning methods will be vital to make best use of the deluge of data generated by high-throughput technologies in biomedical science. To get the most out of these models, however, we need to be able to unpack the 'black box'. I will use curated clinical and public research data to benchmark and develop interpretable deep learning models and software tools. These models will be used for breast cancer screening programs and for analysis of complex, large-scale single-cell genomics data.
Next Generation Of Medical Devices And Diagnostics
Funder
National Health and Medical Research Council
Funding Amount
$2,738,220.00
Summary
This Investigator Project will deliver innovative technologies that improve patient wellbeing, make significant economic impact and contribute to answering complex biological questions. This will happen via delivering breakthrough technologies to prevent infections and diagnose diseases – two area that currently require substantial technological advances. In addition to helping patients and clinicians, the project will also deliver solid body of new knowledge that is currently missing.
Reducing Colorectal Cancer Burden In Young Adults: Precision Prevention And Early Detection
Funder
National Health and Medical Research Council
Funding Amount
$1,449,800.00
Summary
Bowel cancer rate in young adults before age 50 is increasing worldwide including Australia. Since it is impossible to screen everyone, it is critical to identify who is likely to develop the disease, to optimise screening. Using the world's largest resource for young-onset bowel cancer, I will conduct studies to generate high-quality evidence to inform how to best prevent bowel cancer in young adults and translate into the policy and practice, to reduce colorectal cancer burden in young adults.
An In Vitro Pipeline For Liquid Biopsy Biomarkers For Cancer Diagnosis And Therapy
Funder
National Health and Medical Research Council
Funding Amount
$3,764,215.00
Summary
A droplet of blood contains information whether a person has cancer, the stage of the cancer and how their response to treatment. The proposed research will employ ultrasensitive detection technologies to analyse so-called biomarkers released from cancer cells. We will use lab-based models of cancer, generated with a 3D bioprinter, to learn what biomarkers tell us about cancer type and response to drugs. This knowledge is urgently needed for early cancer detection and better cancer treatment.
Early Detection And Early Intervention For Cerebral Palsy
Funder
National Health and Medical Research Council
Funding Amount
$2,088,220.00
Summary
Cerebral Palsy (CP) is Australia’s 5th expensive health condition. Early Detection and effective early interventions are vitally needed to improve long-term outcomes. This fellowship develops and tests novel interventions to optimise neuroplasticity by improving early detection and physical, cognitive, psychological and health outcomes in children with CP. Earlier accurate detection of CP will ensure effective treatments utilise critical periods of brain development.