Functional Analysis Of The X-linked Hypopituitarism (XH) Gene SOX3
Funder
National Health and Medical Research Council
Funding Amount
$331,000.00
Summary
Many of the processes that are essential for normal bodily function such as growth, the ability to cope with stress, sexual organ development and metabolism are controlled by the pituitary gland. This organ is located at the base of the brain and regulates these bodily functions through the release of six different hormones. Formation of the pituitary gland occurs during development of the foetus. This process requires a specific set of genes that shape the pituitary and allow the hormone-secret ....Many of the processes that are essential for normal bodily function such as growth, the ability to cope with stress, sexual organ development and metabolism are controlled by the pituitary gland. This organ is located at the base of the brain and regulates these bodily functions through the release of six different hormones. Formation of the pituitary gland occurs during development of the foetus. This process requires a specific set of genes that shape the pituitary and allow the hormone-secreting cells to arise. Changes in these pituitary formation genes results in dysfunction of the pituitary (hypopituitarism) in newborn babies. In severe cases, where the pituitary has failed to form completely, these babies are extremely ill and in some instances do not survive. We are studying families with an inherited form of hypopituitarism in which only male children are affected. This disorder is due to the presence of an extra piece of genetic material (DNA) on the X chromosome. We have recently discovered that one of the duplicated genes, SOX3, causes this disorder. The overall aim of this proposal is to understand how SOX3 causes hypopituitarism by generating a mouse model for this disorder. Analysis of this mouse model will help us to understand the clinical features of hypopituitarism and may allow us to identify previously uncharacterised anatomical defects associated with this disorder. Ultimately,we hope to develop new and improved therapies for hypopituitarism using this mouse model.Read moreRead less
The Landscape Of Cancer Genes And Associations With Prognosis In Breast Cancer Diagnosed In Premenopausal Women
Funder
National Health and Medical Research Council
Funding Amount
$700,512.00
Summary
Using state of the art technology, the purpose of this project is understand the implications of known cancer mutations in breast cancer diagnosed in premenopausal ER-positive breast cancer. Mutations are abnormalities in the DNA of genes that can provide a signal for uncontrolled growth, a hallmark of cancer. The unique aspect of this project is use of tissue samples from patients who were diagnosed with breast cancer at a young age. This information will help us develop new treatments.
Advancement Of A Personalised Approach To Minimising Infective Complications In Cancer Care
Funder
National Health and Medical Research Council
Funding Amount
$265,138.00
Summary
Managing infections in patients with cancer have become more difficult and unpredictable because of new generation cancer therapies. Measuring the response of the immune system (immune profiling) will allow us to predict which patients will develop infection so that action such as vaccination can be taken to reduce their risk. This program will refine immune profiling to personalise infection care for cancer patients and to introduce it into hospital practice.
Predicting Infections In Cancer Of The Plasma Cells In Bone Marrow (myeloma)
Funder
National Health and Medical Research Council
Funding Amount
$107,764.00
Summary
The study will look for new risks for infection in patients with multiple myeloma, a cancer of plasma cells in the bone marrow. Currently these patients are expected to live longer because of the discovery and use of new generation cancer drugs. By finding new infection risks, the treatment of life threatening infections can be improved or infection can be prevented so patients have a better quality of life whilst on cancer treatment.
The Prediction And Prevention Of Caesarean Section For Slow Progress In Labour
Funder
National Health and Medical Research Council
Funding Amount
$227,261.00
Summary
8% of all births are by caesarean section (CS) for slow labour. Bringing on labour just before the due date reduces the chance of CS but we can’t do this for all women. We have a way to predict high risk of CS for slow labour to select women who may benefit from bringing on the labour. We will perform a study where the women at high risk have can have the labour brought on slightly early. The project could result in 6,000 fewer CSs in Australia alone and prevent many complications of CS.
Helping Stroke Physicians Choose Who To Thrombolyse - The Targeting Optimal Thrombolysis Outcomes (TOTO) Study
Funder
National Health and Medical Research Council
Funding Amount
$1,073,140.00
Summary
Thrombolysis using alteplase is one of the most effective treatments for stroke but is currently used in only 5% of stroke cases. A major barrier is a lack of tools to identify who will benefit from treatment, or who might have a major adverse event. In this study we will develop a clinical decision rule based on clinical data, advanced CT imaging, and blood biomarkers to help identify those who will benefit and those likely to bleed, to encourage wider use of this treatment in acute stroke.