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.
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.
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.
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.
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.
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.
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.
Constructing Control Samples For The Australian And Other Populations: Improving Power And False Positive Rates In The Next Generation Of Genetic Association Studies With A Focus On Controlling For Fine-scale Population Structure In DNA Sequence Data
Funder
National Health and Medical Research Council
Funding Amount
$283,447.00
Summary
Individuals who live near each other tend to be more similar genetically than individuals who live in different parts of the world. One reason is that they share more of their genetic ancestry. There can be very subtle differences in patterns of genetic variation even within countries. Accounting for these subtle differences can be important for studies of the genetic basis of diseases. We will develop novel statistical methods to control for these genetic differences in disease studies.
Methods And Software Tool For Complex Trait Analyses Using Multi-omics Data
Funder
National Health and Medical Research Council
Funding Amount
$573,999.00
Summary
This project aims to develop methods to disentangle the contribution of people’s difference in DNA sequence, DNA methylation, and gene expression to their difference in characteristics (including risks to diseases), and to utilise these information to predict disease risks of different people. This project also aims to develop a versatile and efficient computer software to implement the methods being proposed in this project, as well as all other commonly used methods in the research community.