Identification Of Testis-specific Markers Of Male Infertility
Funder
National Health and Medical Research Council
Funding Amount
$617,008.00
Summary
Infertility affects 1 in 20 men, and carries major health and financial burdens. Patient management is difficult because there are no tests to monitor testicular function. While sperm number is normally used, their absence in the ejaculate provides no information whether sperm are present in the testis suitable for IVF, or if sperm production could be ‘kick-started’ with hormones. Our goal is to identify new markers of testis function in blood, and then use them to help treat infertile men.
Identification And Molecular Characterisation Of High-risk Premalignant Breast Lesions
Funder
National Health and Medical Research Council
Funding Amount
$560,382.00
Summary
Understanding the full repertoire of genetic events that underlie the development of breast cancer may allow development of prevention strategies. This study will analyse genetic data of benign breast lesions that may be non-obligate precursors of breast cancer. Importantly, clinical management of these lesions is difficult. A reliable method of predicting the risk of progression to cancer would be a significant advance, with benefits to individual patients and also the health system.
High-throughput genetic assays are commonly used to study the molecular basis of disease and such technology requires sophisticated data analysis methods that account for significant biological and experimental complexity. Specialized methods will be developed in free public software that will greatly benefit future genetic profiling studies.
The Effects Of Different Alcohol Pricing Policies On Alcohol Consumption, Health, Social And Economic Outcomes, And Health Inequality In Australia
Funder
National Health and Medical Research Council
Funding Amount
$276,738.00
Summary
This project will examine the effects, effectiveness and cost-benefits of alcohol pricing policy initiatives in reducing risky drinking, health and social harms and health inequalities among priority populations in Australia. This project will provide key research evidence to cut through current policy debates and will point towards the most effective potential options for alcohol tax reform.
COMPARE- Constraint Induced Or Multi-Modal Aphasia Rehabilitation: An RCT Of Therapy For Stroke Related Chronic Aphasia
Funder
National Health and Medical Research Council
Funding Amount
$1,035,668.00
Summary
COMPARE is a 3 arm national randomised controlled trial comparing two types of intensive speech pathology treatment to usual care, for people with language disability 6 months to 3 years following stroke. After stratification by aphasia severity, participants are randomised to Multi-modality Aphasia Therapy, Constraint Induced Aphasia Therapy, or usual care. Cognitive, language, and speech assessments at baseline will enable sophisticated predictors of treatment responsiveness to be defined.
Pathways To Avoidable And Unexplained Deaths In The Early Lifecourse
Funder
National Health and Medical Research Council
Funding Amount
$1,108,086.00
Summary
There continues to be unacceptable numbers of avoidable deaths in early life in Australia, particularity among disadvantaged groups. This project will use novel, large-scale population data to identify and quantify the impact of risks to early life mortality and preventable pathways. This new knowledge will inform new strategies to prevent stillbirth and child deaths for the benefit of Aboriginal and Torres Strait Islander and other populations.
Our overall objective is to significantly improve the efficacy and efficiency of image-guided neurosurgery for brain tumours by including realistic computation of brain deformations, based on a biomechanical model, in a system to improve intra-operative visualisation, navigation and monitoring. The system will create an augmented reality visualisation of the intra-operative configuration of the patient’s brain merged with high resolution pre-operative imaging data.
Co-operation Between GATA2 Mutation Or Expression And RAS Signalling In AML
Funder
National Health and Medical Research Council
Funding Amount
$860,601.00
Summary
We have identified a gene GATA2 which, when mutated, can lead to leukaemia (blood cancer). We will collect samples worldwide from families and individuals that carry GATA2 mutations and have developed leukaemia, and will screen for other genetic changes that contribute to leukaemia. We have also identified a novel group of patients who have a low GATA2 activity and who also have mutations in the RAS gene, a known contributor to leukaemia. We will determine how these cooperate to cause leukaemia.
Identifying Mitochondrial Genome Variants Associated With Familial Migraine Susceptibility
Funder
National Health and Medical Research Council
Funding Amount
$443,273.00
Summary
New therapeutic targets for migraine are desperately needed. Although studies have identified some migraine genes there remains considerable underlying genetic variation to be characterised. This study aims to identify functional variants in the mitochondrial genome that contribute to migraine susceptibility, utilising the isolated Norfolk Island population. Outcomes will determine the significance of the variants identified, potentially leading to new diagnostics.
Identifying Novel Gene Mutations For Molecular Diagnosis Of Familial Hemiplegic Migraine
Funder
National Health and Medical Research Council
Funding Amount
$623,460.00
Summary
This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.