Statistical Methods For Identifying Structural Variation In Tumour Genomes Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$243,458.00
Summary
New DNA sequencing technology can sequence a tumour genome affordably in 2 weeks. This re-sequencing data can be used to find small mutations and large-scale chromosomal rearrangements that together are the drivers of cancer. These may one day be used to guide cancer therapy. This project will develop new algorithms for finding mutations and apply these to discover the genetic basis of drug resistance in a model lymphoma system.
Investigation Of Dysfunction Of OPRS1, A Novel Gene Implicated In Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$535,471.00
Summary
A new gene has recently been discovered to play an important role in various brain and nerve degeneration disorders, including frontotemporal dementia and motor neuron disease. The aim of this project is to discover what biological processes are involved when this gene malfunctions, as this will provide knowledge important for development of new treatments for the many people worldwide affected with these disorders.
NATIONAL TRENDS IN SUICIDE BY AGE, GENDER, GEOGRAPHY, SOCIO-ECONOMIC AND MIGRANT STATUS AND MENTAL HEALTH
Funder
National Health and Medical Research Council
Funding Amount
$148,690.00
Summary
Suicide in Australia has become an increasingly important public health problem, chiefly because of increasing rates in some population sub-groups, and to a lesser extent because declines in other external causes of death have increased the prominence of suicide. Since the 1970s suicide rates have increased in young males and have eclipsed motor vehicle accidents as the dominant cause of death in this group. Suicide in the young produces a significant impact on years of life lost from premature ....Suicide in Australia has become an increasingly important public health problem, chiefly because of increasing rates in some population sub-groups, and to a lesser extent because declines in other external causes of death have increased the prominence of suicide. Since the 1970s suicide rates have increased in young males and have eclipsed motor vehicle accidents as the dominant cause of death in this group. Suicide in the young produces a significant impact on years of life lost from premature mortality. Suicide rates have been shown to vary by socio-economic status, ethnicity, area of residence, age and sex. In NSW for example, suicide rates in young males have been found to have increased by 50% in urban areas, and by 5-6 times in isolated rural areas. Another study has shown suicide rates to vary by country-of-birth which in turn has an effect on its relationship with socio-economic status. However, not all studies have replicated findings in NSW. In Queensland, for example, it has been shown that male youth suicide rates in rural areas have not substantially exceeded those in urban areas. There have been very few studies at the national level of variations in suicide in Australia. Most studies of Australian suicide to date have been confined to state-level analyses or to very limited nation-level analyses. An additional spur to a whole-nation approach to suicide has been the nation-wide Australian Bureau of Statistics Mental Health and Wellbeing Profile of Adults and a similar mental health survey of youth. Thus for the first time it will be possible to relate population prevalence of self-reported mental illness to suicide rates. In short, the current proposal addresses the two major gaps in Australia in population suicide research: examining suicide at the national level with regard to geographic location, immigrant and socio-economic status; and correlating surveyed prevalence of mental illness with suicide rates.Read moreRead less
Melanoma is the 4th most common cancer diagnosed in Australia. Advanced melanoma frequently spreads to other organs and can acquire resistance to anti-melanoma treatments, making it fundamentally incurable. I am focused on investigating the mechanisms underlying melanoma disease progression. I will achieve this by comparing the biological nature of melanoma cells at different stages of disease and therapy-resistance to identify new targets for the more effective treatment of patients with melano ....Melanoma is the 4th most common cancer diagnosed in Australia. Advanced melanoma frequently spreads to other organs and can acquire resistance to anti-melanoma treatments, making it fundamentally incurable. I am focused on investigating the mechanisms underlying melanoma disease progression. I will achieve this by comparing the biological nature of melanoma cells at different stages of disease and therapy-resistance to identify new targets for the more effective treatment of patients with melanoma.Read moreRead less
Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.
Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.