Thyroid hormones are regulators of development and metabolism. The lack of concordance of thyroid function and disease in identical twins suggests that environmental effects have a significant role. Quantifying epigenetic modifications, such as DNA methylation, has the potential to identify causal effects from the environment. This research will provide a comprehensive database of DNA methylome alterations that will contribute important insights into thyroid function in health and disease.
Thyroid cancer is the commonest endocrine malignancy, and typically affects younger adults. Despite low mortality rates, local recurrence is not uncommon and re-operative surgery can cause significant morbidity. We are studying genetic variants in thyroid transcription factors associated with thyroid cancer predisposition. Our work will determine the mechanism of this association, and provide new strategies for early diagnosis and prevention of thyroid cancer.
Identification Of Genetic Variants Regulating Thyroid Function In Health And Disease By Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$316,433.00
Summary
Small differences in thyroid function are associated with important clinical outcomes including longevity and cardiovascular disease. We recently completed a Genome Wide Association Study and identified a novel locus associated with blood levels of Thyroid Stimulating Hormone. In this project we will extend that research to study rare genetic variants and examine their association with thyroid function in health and disease.
Understanding Causes Of The Rising Incidence Of Thyroid Cancer – What Can Mutations In The BRAF Oncogene Tell Us About Causes And Diagnostic Pathways For Thyroid Cancer?
Funder
National Health and Medical Research Council
Funding Amount
$610,222.00
Summary
The occurrence of thyroid cancer has increased rapidly over the last 25 years but the cause is unknown. The increase may reflect ‘over-diagnosis’ of less harmful cancers or greater exposure to causes of this cancer. Evidence suggests that a gene mutation (BRAF) in thyroid cancers is important in understanding the drivers of the increase. This study will examine the increase in thyroid cancer by investigating causes and diagnostic pathways considering the presence or absence of BRAF mutations.
Nuclear Receptors And Triple Negative Breast Cancer
Funder
National Health and Medical Research Council
Funding Amount
$681,979.00
Summary
This project will explore the potential for a nuclear receptor known as the thyroid receptor to suppress growth of breast cancer using cell culture models and mouse models. We hope to show that activating the thyroid receptors leads to a reduction in breast cancer growth providing evidence that the thyroid receptor pathway could be targeted for therapy.
Infant Thyroid Hormone Levels And Long-term Child Educational Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$490,495.00
Summary
Adequate levels of newborn thyroid hormones are essential for brain development.Newborn screening for thyroid hormone deficiency ensures early identification, treatment & prevention of severe intellectual disability.But there is clinical uncertainty in mildly abnormal levels.We will assess thyroid hormone levels & subsequent educational outcomes in 1.5M Australian babies.There is potential to identify infants who, without treatment, may suffer longterm disability & lower educational achievement
Balance disorders are very common, but particularly in those conditions that involve the brain 'balance centres' are often difficult for doctors to diagnose. When diseases are difficult to diagnose, then recommending helpful treatment is particularly challenging. We will use a group of specialized tests to better understand these balance conditions in order to help patients receive accurate diagnoses and therefore, better treatment.
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.
Dopamine-2 Receptor Antibody In Movement And Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$415,783.00
Summary
Autoimmune movement and psychiatric disorders are a common cause of neurological disability young adults and adolescents. We have identified a subgroup of patients whose disease is associated with an autoimmune reaction. Our study will identify the earliest immune responses against the brain in children with autoimmune movement and psychiatric disorders. Identifying these early immune responses will allow early and directed treatments to prevent disability and death in the future.
Multivariate Whole Genome Estimation And Prediction Analysis Of Genomics Data Applied To Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$639,582.00
Summary
We have made major contributions to the development of statistical methods applied to data from the international Psychiatric Genomics Consortium. Major new data sets will soon become available, with immense sample sizes (100,000s) and more extensive clinical and environmental data. We will develop and apply novel statistical analyses of these data, to answer fundamental questions about the genetic basis of psychiatric disorders and the interplay of genetic and environmental risk factors.