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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.
Advances In The Understanding Of Autoimmune Encephalitides And Associated Movement Disorders In Children
Funder
National Health and Medical Research Council
Funding Amount
$68,832.00
Summary
Encephalitis in childhood can be devastating with long lasting effects and mortality. This research focuses on children who suffer from encephalitis due to an autoimmune process. In such cases many children present with involuntary abnormal body movements. This project will explore whether differences in the nature of these movements or in electroencephalography or brain imaging with MRI, can help early differentiation of different types of autoimmune encephalitis.
Improving Palliative Care For People After Acute Stroke
Funder
National Health and Medical Research Council
Funding Amount
$96,653.00
Summary
Stroke is a leading cause of death, disability and is a symptom burden worldwide. It impacts patients and their families in various ways, including physical, emotional, social, and spiritual aspects. Stroke outcome is uncertain and decision making complex. To date, there is no integrated concept for palliative care in stroke that addresses the appropriate moment to start palliative care for stroke patients.
Nerve And Muscle Excitability In Inclusion Body Myositis
Funder
National Health and Medical Research Council
Funding Amount
$81,294.00
Summary
Our study will use recently developed neurophysiological techniques to study nerve and muscle excitability in sporadic inclusion body myositis, a poorly understood progressive muscle disease for which no effective treatment is known. We will determine whether the electrical properties of nerve and muscle cell membranes are affected and obtain clues as to where this dysfunction may occur. This may aid development of effective therapies through a better understanding of disease mechanisms.
The Neuro-ophthalmological Manifestations Of Human Mitochondrial Diseases.
Funder
National Health and Medical Research Council
Funding Amount
$100,675.00
Summary
Human mitochondrial diseases often result in neuro-ophthalmological abnormalities. We aim to examine a cohort of patients with mitochondrial disease and document the type and degree of neuro-ophthalmological abnormality. We will provide detail on the retina, optic nerve, oculomotor function, eyelids and visual acuity. We will examine the optic nerve in detail and perform optical coherence tomography and visual evoked potentials on each patient. We will compare results to age-matched controls.
Clinical And Microbiological Predictors Of Post-operative Crohn's Disease Recurrence
Funder
National Health and Medical Research Council
Funding Amount
$120,253.00
Summary
The multi-centre randomised controlled POCER (Post-Operative Crohn’s Disease Recurrence) trial has shown that following “curative” surgery, the anti-tumour necrosis factor drug adalimumab prevents recurrent disease in almost all patients. I will examine the multiple factors that contribute to disease recurrence including assessment of mucosal microbiota, faecal biomarkers and serological antibody markers in patients with Crohn's disease. Results will improve clinical outcomes and change internat ....The multi-centre randomised controlled POCER (Post-Operative Crohn’s Disease Recurrence) trial has shown that following “curative” surgery, the anti-tumour necrosis factor drug adalimumab prevents recurrent disease in almost all patients. I will examine the multiple factors that contribute to disease recurrence including assessment of mucosal microbiota, faecal biomarkers and serological antibody markers in patients with Crohn's disease. Results will improve clinical outcomes and change international practice.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.