Improving The Diagnosis, Treatment And Prevention Of Infectious Diseases In Children
Funder
National Health and Medical Research Council
Funding Amount
$2,410,857.00
Summary
I am a clinician scientist whose research team bridges the gap between laboratory and clinical research to reduce the impact of childhood infectious diseases worldwide. The two main themes within my research program are: 1. Improving the diagnosis of childhood tuberculosis (TB) in resource-poor settings. 2. Understanding how BCG, the vaccine used to protect against TB, reduces other childhood illnesses, including non-TB infections, allergies, eczema and asthma.
Creating An Empirically Based Classification System For Mental Illness
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Mental disorders are typically diagnosed using a set of strictly agreed diagnostic criteria. For example, in the DSM-5 a major depression diagnosis requires at least five of nine symptom criteria to be met. However, the DSM-5 is now widely agreed to have important limitations for the work of researchers and clinicians. My research will overcome those limitations by completing a data-driven classification system based on the patterns in the ways people experience symptoms of mental illness.
Pathogenic Repeat Expansions In Ataxia: Advancing Gene Discovery And Genetic Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.
Comparative Effectiveness Of Breast Tomosynthesis And Mammography In Real-world Population Screening: Evidence To Underpin And Improve Breast Cancer Screening
Funder
National Health and Medical Research Council
Funding Amount
$1,851,430.00
Summary
This research addresses key evidence gaps in breast cancer screening by investigating tomosynthesis (3D mammography) versus standard 2D mammography screening to establish the effectiveness of tomosynthesis in Australia and internationally, including impact on cancers not detected at screening that progress clinically. Large-scale studies will be done in real world screening services including a prospective comparative study planned collaboratively with BreastScreen to guide screening policy.
Targeting The Immune Cells Of The Brain To Develop Novel Treatments For Neurodevelopmental And Mental Health Problems In Children
Funder
National Health and Medical Research Council
Funding Amount
$1,800,000.00
Summary
Neurodevelopmental and mental health problems are common in children and cause major impairment and cost to society. This research will define how the maternal immune system while pregnant can affect the baby brain. Using patient studies and laboratory research, this research will result in novel ways to reduce the prevalence and severity of developmental and mental health problems in children and adults, by targeting the immune cells resident in the brain.
Diagnosing Hereditary Myopathies And Dystrophies With RNA Sequencing: Translating Research Innovations Into Diagnostic Practice
Funder
National Health and Medical Research Council
Funding Amount
$279,725.00
Summary
Despite recent advances in genetic testing, more than 50% of patients with hereditary neuromuscular disorders remain undiagnosed. This project aims to apply an alternative and the newest form of Next Generation Sequencing (NGS) testing strategy known as transciptome or RNA sequencing to clinical practice to further investigate patients who have remained undiagnosed despite WES and WGS.
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.
Precision Epigenetics: Targeting The Epigenome To Treat Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,940,576.00
Summary
Epigenetic marks are changes made to the DNA that allow genes to be switched off in some cells and switched on in others. These marks are critical to normal development and often go wrong in disease. We aim to find genes that add epigenetic marks to the DNA and understand how they co-operate at the molecular level to switch genes off. Our focus is on one such gene, SMCHD1. We are developing new drugs against SMCHD1 to treat incurable neurodevelopmental disorder PWS and muscular dystrophy FSHD.
Improving The Health Outcomes For Children With Rare Neurological Diseases With Genomic Technologies
Funder
National Health and Medical Research Council
Funding Amount
$1,000,000.00
Summary
This investigator grant will facilitate expansion of high quality evidence of the application of genomic technologies to improve targeted treatment options and early diagnosis for rare devastating neurological diseases, improving the clinical and translational applications of genomics to transform lives for children and families.
Personalising The Delivery Of E-mental Health Interventions For Eating Disorders
Funder
National Health and Medical Research Council
Funding Amount
$632,429.00
Summary
This Investigator Grant aims to evaluate the efficacy and cost-effectiveness of an eHealth prevention and treatment program using a stepped-care approach. Findings are expected to show that eating disorders can be effectively and efficiently treated and prevented through low intensity, cheap, and widely available digital interventions, and by doing so it will directly address the unmet needs of people with or at risk for an eating disorder in a practical, scalable, and cost-effective manner.