Understanding The Causes Of Childhood Congenital Anomalies Of The Kidney And Urinary Tract
Funder
National Health and Medical Research Council
Funding Amount
$609,748.00
Summary
Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified ....Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified genes.Read moreRead less
Identifying The Pathological Mechanism Of PCDH19-Girls Clustering Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$523,988.00
Summary
Changes in the PCDH19 gene are a relatively common cause of epilepsy. To better understand the basis of this disorder, we have developed unique mouse models that mimic the genetic changes and symptoms of this condition. We will perform careful analysis of brain development in these models to determine the primary cause of this condition. These experiments will create greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.
Testing Novel Therapies Using Paediatric Brain Tumour Models
Funder
National Health and Medical Research Council
Funding Amount
$384,023.00
Summary
Brain tumours are the second most common childhood cancer, with 300 children affected in Australia each year. Many children with brain tumours continue to die of their disease, whilst survivors are often left with devastating life long side effects. Our goals are to harness the power of innovative model systems of childhood brain tumours, in order to test the effectiveness of new treatments for these devastating diseases, so that the most promising therapies can be taken through to the clinic.
A Genome-wide Search For Genes Underlying The Developmental Origins Of Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,022,552.00
Summary
Epidemic rises in the incidence of many chronic diseases such as obesity, type 2 diabetes, hypertension, coronary artery disease and mental illness have occurred in Australia over the last two decades. Antenatal, early life and childhood factors have been consistently associated with the development of such diseases. We propose to conduct a genome-wide scan in an exceptional longitudinal birth cohort in order to identify the genetic mechanisms linking early life event and adult disease.
Gene Mining For Novel Molecular Determinants Of The Skeleton
Funder
National Health and Medical Research Council
Funding Amount
$633,447.00
Summary
Musculoskeletal conditions affect over 6 million Australians and research has shown that genetic background strongly influences development of these disorders. This project will identify genes that have a role in controlling bone and joint architecture. Identification of these genes will assist in the development of treatments targeting bone disorders and allow screening for these genes to provide an opportunity for people to take preventative action to improve bone and joint health.
Reprogramming Macrophage Function In The Elderly To Rescue Impaired Inflammatory Responses To Muscle Injury
Funder
National Health and Medical Research Council
Funding Amount
$410,983.00
Summary
Muscle injury in the elderly often takes longer to heal than in younger people, however the cells responsible for this delayed healing are not well understood. Key inflammatory cells required for muscle repair in young hosts are macrophages. However, during aging we have shown that macrophage function is altered, but the mechanism is unknown. This project aims to determine the mechanisms behind age-related changes to macrophages and whether they can be targeted to improve elderly muscle repair.
The Social Production of Science in Antarctica: A Study of Davis Station. Antarctica is a unique scientific laboratory. It is the only continent historically uninhabited by humans; access to its vast land and ice-scapes, and its surrounding oceans, is today almost exclusively reserved for scientists. Although these 'Antarcticans' represent multiple disciplines, and pursue a wide variety of research agendas, their shared experiences of working on the continent, and their shared professional netwo ....The Social Production of Science in Antarctica: A Study of Davis Station. Antarctica is a unique scientific laboratory. It is the only continent historically uninhabited by humans; access to its vast land and ice-scapes, and its surrounding oceans, is today almost exclusively reserved for scientists. Although these 'Antarcticans' represent multiple disciplines, and pursue a wide variety of research agendas, their shared experiences of working on the continent, and their shared professional networks, mean that they constitute a distinct community of practice. However, this community has yet to be subjected to detailed ethnographic enquiry. This project aims to examine Antarctic scientists' research practices, and their cultures of knowledge production, through an ethnographic study of Australia's Davis Station.Read moreRead less
Increased Airway Smooth Muscle Mass As An Independent Determinant Of Asthma Pathogenesis And Severity
Funder
National Health and Medical Research Council
Funding Amount
$409,966.00
Summary
Asthma is a major health burden to the community. The most common form of the disease is allergic asthma and it is thought that allergic inflammation drives associated airway abnormalities including increased airway smooth muscle (ASM) mass. This study tests a new hypothesis that airway abnormalities and allergy have separate origins but combine to produce allergic asthma, and it’s the individuals with the greatest amount of ASM who develop clinically severe asthma.
Exercise As Medicine For Heart Failure: A Novel Intervention To Improve Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$665,585.00
Summary
Heart failure (HF) is a common, debilitating and expensive disease; prognosis remains poorer than for the most cancers. 30,000 Australians are diagnosed every year and 300,000 live with the HF, at an annual cost of ~$1Billion. Exercise training is effective therapy in HF, because it reverses many of the problems that contribute to the reduced lifespan and impaired quality of life of patients with HF. We will test an exciting new type of exercise that promising greater benefit, at lower risk.
Improving The Prevention, Treatment And Management Of Cardiovascular & Chronic Disease In The Community
Funder
National Health and Medical Research Council
Funding Amount
$774,540.00
Summary
The identification, prevention and management of cardiovascular and chronic disease risk factors and understanding impact on clinical outcomes is fundamental to improving health and well-being. The program of work encapsulated in this application utilises modern epidemiological research methods involving large scale clinical trials, registries and epidemiological modelling to advance our understanding and provide new directions for cardiovascular disease prevention and management.