Exome Sequencing By NGS To Identify Rare Variants Affecting Type 2 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$570,425.00
Summary
Rates of type 2 diabetes are rising dramatically, and current efforts are failing to stem its progression. More information about why the disease develops is urgently needed. We apply the latest technological innovations in DNA analysis to accelerate the discovery of the mechanism behind the development of type 2 diabetes. This knowledge will lead to new ways to control diabetes through development of novel therapies.
Genetic Polymorphisms Associated With Clinical And Dermoscopic Naevus Signature Patterns
Funder
National Health and Medical Research Council
Funding Amount
$842,841.00
Summary
Melanoma is a form of skin cancer that arises from the cells that produce pigment and is a major public health issue in Australia. We will examine the relationship between the form, structure and colour of existing types of moles and their subsequent risk of developing into melanoma. This study will combine dermoscopy, a non-invasive examination technique, with DNA tests of the genes that determine number of naevi, skin, hair and eye colour, aiding in the early prediction and diagnosis of skin c ....Melanoma is a form of skin cancer that arises from the cells that produce pigment and is a major public health issue in Australia. We will examine the relationship between the form, structure and colour of existing types of moles and their subsequent risk of developing into melanoma. This study will combine dermoscopy, a non-invasive examination technique, with DNA tests of the genes that determine number of naevi, skin, hair and eye colour, aiding in the early prediction and diagnosis of skin cancer.Read moreRead less
Neurodevelopment During Adolescence: A Longitudinal Imaging Study
Funder
National Health and Medical Research Council
Funding Amount
$1,706,589.00
Summary
Adolescence is a risk period for the emergence of psychiatric disorders. It is also a time of rapid change in the brain, but few studies have detailed changes in neurodevelopment during this sensitive period. We will study twins from early adolescence and use brain imaging to investigate changing brain patterns as the brain matures, and thereby, gain insight into factors responsible for increasing our risk or resilience for major mental health conditions and optimal points for intervention.
Severe sepsis is characterised by organ dysfunction secondary to infection, typically bacterial. We will quantify bacteria in the bloodstream of patients with septic shock, the most severe form of sepsis, to determine the relationship between bacterial load and clinical outcomes. We hypothesise that the bacterial load on presentation and the change in bacterial load over time determines survival and the evolution of organ failure in patients with septic shock.
Clinical And Neurobiological Predictors Of Onset Of Major Mental Disorders (mania, Psychosis, Severe Depression), And Associated Functional Impairment, In Adolescent And Young Adult Twins: A Prospective Longitudinal Study
Funder
National Health and Medical Research Council
Funding Amount
$1,356,103.00
Summary
The Brisbane Twin Study is a prospective twin study tracking the real-time developmental trajectories of the onset of anxiety, mood, psychotic or substance misuse disorders through adolescence and young adulthood. This unique study has now reached the point where reassessment (after 20 years) can be performed. We will now determine the extent to which outcomes are predicted by neurobiological and genetic markers. This information is critical to prevention or early intervention strategies.
Understanding The Molecular Basis Of Epididymal Maturation: How Does The Epididymis Modify Spermatozoa, Allowing Them To Recognise The Egg ?
Funder
National Health and Medical Research Council
Funding Amount
$585,898.00
Summary
Male infertility is a significant clinical problem affecting one in twenty Australian men. A common feature of this condition is the sperm’s inability to recognize the egg. Sperm gain this property as they transit an organ known as the epididymis. We have produced genetically modified mice with a specific epididymal defect that prevents sperm-egg recognition. This study will examine the structure of these defective sperm to generate new insights into the molecular basis of sperm-egg interaction.
This study investigates how much an individual's genes and environment account for the wide variation in brain structure and function. Using brain imaging we examine in what way the connectivity of the brain of identical and non-identical twins is the same or different from that of their co-twin, and carry out analysis of their DNA to identify some of the genes involved. This will provide fundamental information on genetic mechanisms influencing variation in brain structure and function.
In the study of common disease, it is becoming apparent that it is not only an individual's DNA sequence that can encode susceptibility to disease, but also chemical modifications to that sequence. Despite the importance of these chemical modifications in the development of disease, there has been no comprehensive survey of the extent which they are transmitted across generations in humans. This proposal will investigate how one of those modifications, DNA methylation, is inherited.
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.