Novel Inhibition Of Cancer Cell Growth In Gastrointestinal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$47,474.00
Summary
This research project will focus on new treatment targets for gastrointestinal malignancies, focusing on the mTOR pathway which is important in driving cancer cell growth. The mTOR inhibitor drug Everolimus will be used in colon and biliary tract cancers to look for novel biomarkers of response and resistance to treatment, using cancer cell lines and correlative analysis with data obtained from patients' tumour samples and clinical assessment in current trials.
Advancing Diagnostics For The Congenital Muscular Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$69,500.00
Summary
The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatm ....The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatment.Read moreRead less
Gestational diabetes is an important medical condition. We plan to investigate two subgroups of women with gestational diabetes. Firstly, women who have diabetes antibodies in pregnancy. Secondly, women who have a mild form of diabetes caused by a single gene mutation, who may be first identified during pregnancy. Correct identification of these subgroups of women is important for immediate and long-term management of both the mother and her fetus.
Psychosocial Aspects Of Genomic Testing For Breast Cancer Risk
Funder
National Health and Medical Research Council
Funding Amount
$108,902.00
Summary
Assessing a woman’s breast cancer risk by profiling polygenic risk represents a new approach in the familial cancer setting. My study is part of a program of research that aims to facilitate translation of polygenic risk information into clinical practice. For this, I will invite 400 women to receive their personal polygenic result and i) assess interest in receiving this result; ii) assess psychological and behavioural outcomes of receiving or not receiving their personal polygenic risk result
The Incidence And Genetics Of The Infantile Epileptic Encephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$175,224.00
Summary
Severe epilepsies with frequent seizures and cognitive impairments in the first 18 months of life are known as ‘infantile epileptic encephalopathies’ (IEE). The cause of IEE is unknown in many patients, although presumed genetic. This study of patients with IEE in Victoria aims to describe the incidence of IEE, and understand the genetic causes of IEE. Understanding the causes of IEE will be the first step towards development of urgently-needed novel therapies for these devastating conditions.
Understanding The Pathogenesis, Phenotypic Variation And Risk Prediction Of Childhood Asthma Using Computational Approaches
Funder
National Health and Medical Research Council
Funding Amount
$122,714.00
Summary
Asthma is a common respiratory illness in Australia. It is important to be able to predict who gets asthma, because those who get early treatment tend to fare better. We plan to run complex tests on data collected from hundreds of Australian children. The collected data includes genetic variations, chest infections, and differences in immune responses. From this data we hope to achieve a better understanding of the driving forces behind asthma, and to make better predictions for those at risk.
20% of transplanted kidneys undergo rejection. This can permanently damage or destroy the transplant. Presently, rejection is identified when the kidney function deteriorates. This can occur late after rejection has started. To confirm the diagnosis of rejection, an invasive biopsy associated with discomfort and risks is required. This study will evaluate the use of a simpler blood test to monitor for rejection, allowing earlier and safer identification and treatment.
Environmental Risk Factors And Genetic Modifiers For Lung Health And Lung Function In A High Risk Cohort
Funder
National Health and Medical Research Council
Funding Amount
$95,348.00
Summary
Asthma is an important determinant of respiratory health and longevity. While early life exposures are thought to be important, the evidence linking them with asthma and lung function is inconclusive. There is a scarcity of longitudinal studies and few investigate genes and environment. This study will determine whether environmental exposures along with their relevant genetic modifiers are related to increased risk of asthma and impaired lung function in a high allergy risk birth cohort.
Hypothalamic Regulation Of Appetite And Energy Homeostasis In Prader-Willi Syndrome.
Funder
National Health and Medical Research Council
Funding Amount
$39,987.00
Summary
Prader-Willi syndrome (PWS) is a genetic disease affecting 1/~15 000 people. It causes insatiable appetite and often morbid obesity, as well as other developmental problems. It is thought that there is a defect in the way that the brain regulates eating behaviour in PWS, but the exact mechanism is still unknown. This study proposes to explore metabolic and genetic factors contributing to the appetite disorder in PWS. It will also explore new ways of treating excessive appetite.
Nemaline myopathy is a neuromuscular condition characterised by muscle weakness, low muscle tone and the finding of nemaline bodies or rods on muscle biopsy. This study encompasses a natural history study of nemaline myopathy, genetic diagnosis and gene discovery using new methods of genetic testing, characterisation of a new disease gene for this condition, and reviewing patient experience with tyrosine, a medication commonly used in patients with nemaline myopathy.