Dangerous Dreams: The Next Era In Paediatric Sleep Research
Funder
National Health and Medical Research Council
Funding Amount
$2,238,220.00
Summary
The amount of time and the quality of our sleep affects every aspect of our health and well-being. The amount of time we sleep is maximal in infants and children because it is promotes normal brain development. Sleep problems affect nearly half of all children and adversely affect both learning and blood pressure. The proposed studies will identify and improve treatment of sleep problems to improve overall physical health and quality of life for these children and their families.
Novel Approaches For Targeted Sleep Apnoea Treatment And Management
Funder
National Health and Medical Research Council
Funding Amount
$2,090,576.00
Summary
>1million Australian adults have obstructive sleep apnoea (OSA). OSA has several causes. Untreated OSA is associated with major health consequences. <50% of OSA patients tolerate the main therapy, continuous positive airway pressure. New treatments are urgently required. This proposal aims to use and develop novel approaches to identify the causes of OSA on a per patient basis, improve current therapies and management approaches and test if new targeted therapies can be used to treat OSA.
There are many challenges to the management of sleep disorders. There is mounting evidence that sleep problems promote impaired memory and thinking and ultimately dementia. My research will focus on improving detection and management of sleep disorders using cutting edge technologies in different patient groups with the aim of maximising brain health. This will be achieved by a range of new treatments including clinical trials, digital health approaches and new ways of improving deep sleep.
Suboptimal Sleep And Unhealthy Brain Ageing: Improving Outcomes Through Treatment
Funder
National Health and Medical Research Council
Funding Amount
$632,705.00
Summary
My research will address limitations in our understanding of the impact of sleep characteristics on memory and thinking abilities and biological markers of brain health in older adults, by; 1) exploring these relationships over time, and 2) enabling direct assessment of the effect of improved sleep on memory and thinking, and markers of brain health, following sleep-improvement therapy. My results will contribute to the development of strategies aimed at promoting healthy brain ageing.
The Kids Aren’t Alright: Preventing Depression In Adolescents
Funder
National Health and Medical Research Council
Funding Amount
$600,715.00
Summary
Depression frequently emerges for the first-time during adolescence. This project examines ways to prevent depression in young people by: (i) partnering with schools to deliver broad universal programs to students through the education system, and (ii) treating sleep disturbance, a powerful but non-stigmatised risk factor for onset of depression. Findings from this research will inform innovative ways to address the depression crisis through the optimisation of prevention approaches.
Predicting, Diagnosing And Treating Synucleinopathies
Funder
National Health and Medical Research Council
Funding Amount
$3,738,220.00
Summary
Parkinson’s Disease and Lewy Body Dementia carry a high socioeconomic burden and there are currently no disease-modifying treatments. Existing symptomatic therapies focus on replacing neurotransmitters that are made by neurons that have mostly degenerated prior to clinical diagnosis, warranting a clear need to identify cases at a stage when they might benefit most from neuroprotective interventions, as well as improving symptomatic and developing disease modifying treatments.
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.