Genetic Determinants Of Inherited Optic Neuropathies
Funder
National Health and Medical Research Council
Funding Amount
$249,750.00
Summary
Glaucoma is a slowly progressive visual disorder of the optic nerves often but not always associated with elevated pressure in the eyes. There is a strong genetic component. It is estimated to affect in excess of 60 million people worldwide with more than 6 million of those blind in both eyes. It is the second commonest cause of visual impairment in the developed world, and is present in up to 10% of the population by age 90. Numbers of affected patients in Australia are expected to double in th ....Glaucoma is a slowly progressive visual disorder of the optic nerves often but not always associated with elevated pressure in the eyes. There is a strong genetic component. It is estimated to affect in excess of 60 million people worldwide with more than 6 million of those blind in both eyes. It is the second commonest cause of visual impairment in the developed world, and is present in up to 10% of the population by age 90. Numbers of affected patients in Australia are expected to double in the next 30 years. Current methods of early detection and treatment are often inadequate, and associated visual loss is irreversible. There is a strong need for greater understanding of the disease process and new strategies to prevent and treat visual loss. Two less common causes of untreatable optic nerve blindness are Leber Hereditary Optic Neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) which occur in younger age groups than most cases of glaucoma, and hence sufferers may experience substantial physical, emotional and economic hardship. Over a 10 year period we have seen large numbers of patients with all three eye conditions and have developed a powerful study to determine the genes which cause optic nerve blindness and their relative importance. The research is gathering momentum and the genetics of all 3 conditions are now partly understood. This project seeks to analyse a new major glaucoma gene (Optineurin) in our Australian population and to try to understand the way in which a number of genes interact to cause blindness in some patients but not others. This work will lead to greater understanding of these causes of blindness and is likely to lead to new screening tests to know who is at most risk, and the opportunity to develop and test new treatments targeted to the underlying genetic problem.Read moreRead less
Genetic And Environmental Contributions To The Life Course Of The Common Mental Disorders
Funder
National Health and Medical Research Council
Funding Amount
$1,529,567.00
Summary
The common mental disorders (anxiety, depression, substance use) constitute a major disease burden and cost on the health system. Little is known about their causes and patterns of occurrence over the life span. This study follows a sample of 4000 persons from birth to 30 years of age to determine the environmental and genetic factors that lead to the onset and recurrence of the common mental disorders. It will provide important information to influence the treatment and prevention of these diso ....The common mental disorders (anxiety, depression, substance use) constitute a major disease burden and cost on the health system. Little is known about their causes and patterns of occurrence over the life span. This study follows a sample of 4000 persons from birth to 30 years of age to determine the environmental and genetic factors that lead to the onset and recurrence of the common mental disorders. It will provide important information to influence the treatment and prevention of these disorders.Read moreRead less
A Longitudinal Study Of Depression, Anxiety, Substance Use And Cognitive Change: PATH Through Life Wave 3
Funder
National Health and Medical Research Council
Funding Amount
$2,068,954.00
Summary
The PATH Through Life study is a longitudinal study of depression, anxiety, alcohol and drug use. It is also a study of normal cognitive development, mild cognitive impairment and dementia. PATH involves three cohorts of adults who were aged 20-24, 40-44 and 60-64 at baseline. They are followed up at four yearly intervals. This application seeks funding for Wave 3 of the study, which will allow for 8 years of follow-up of the baseline sample to be conducted. The key aims are to discover the rela ....The PATH Through Life study is a longitudinal study of depression, anxiety, alcohol and drug use. It is also a study of normal cognitive development, mild cognitive impairment and dementia. PATH involves three cohorts of adults who were aged 20-24, 40-44 and 60-64 at baseline. They are followed up at four yearly intervals. This application seeks funding for Wave 3 of the study, which will allow for 8 years of follow-up of the baseline sample to be conducted. The key aims are to discover the relationships between biological and psychological processes in depression, anxiety, substance abuse and cognitive ageing; to identify the socio-demographic factors contributing to these disorders, and to quantify more fully the range of social and economic consequences of mental illness and cognitive decline. Such consequences include reduced workforce participation, relationship breakdown, family and carer burden, suicide attempts, use of health services and need for social welfare. Wave 3 will also focus on transitions into parenthood, fertility and mental health, menopause, and retirement. Factors in early and mid-adulthood that influence healthy ageing and cognitive decline in late life will be identified. Information is obtained on physical health, health habits , social networks, employment and work stress, lifestyle activities, personality, family structure, physical function and cognitive performance. DNA has also been obtained and a sub-sample of the oldest cohort also participate in a study of brain MRIs. Longitudinal analysis is the only means of distinguishing the causes of disorders and tracking their development within individuals. PATH is unique in its narrow age-group design and breadth of measures, allowing for detailed understanding of the pathways to mental health and illness, and for identification of how to prevent mental illness and dementia.Read moreRead less
Understanding The Factors Governing Susceptibility And Outcome In Childhood Infection
Funder
National Health and Medical Research Council
Funding Amount
$276,122.00
Summary
This research seeks to understand why a minority of children are prone to severe and often life-threatening infections and inflammation. It focusses on infections both in preterm infants and in later childhood, which may also be relevant to understanding atherosclerosis. I am also interested in improving the health of recently arrived refugees, by conducting research that allows the development of evidence-based health interventions and developing national policy on refugee health.
Applying Next Generation Sequencing To Family Studies
Funder
National Health and Medical Research Council
Funding Amount
$182,622.00
Summary
Recent advances in technology can determine the DNA composition of a person for much longer stretches of DNA, at a much cheaper cost. I use statistical analysis to identify regions of the human genome that harbour mutations that cause diseases such as epilepsy in families. These regions contain 5-15 million base pairs. We need to find the ONE base pair that causes disease. This application deals with the development of new tools to exploit new technology for the identification of mutations.
To what extent does Australian food policy consider its health impact. This research will examine how public policies relating to food can be made healthier. The diet of Australians currently contributes to high rates of disease including diabetes, heart disease and the underlying issue of obesity. It will examine Australian agriculture and food processing, manufacturing and marketing and the environmental impacts of these sectors. The research will analyse policy documents and interview key peo ....To what extent does Australian food policy consider its health impact. This research will examine how public policies relating to food can be made healthier. The diet of Australians currently contributes to high rates of disease including diabetes, heart disease and the underlying issue of obesity. It will examine Australian agriculture and food processing, manufacturing and marketing and the environmental impacts of these sectors. The research will analyse policy documents and interview key people involved in each sector to determine their views on the ways in which our food supply affects our health. It will result in policy recommendations advising how the Australian food sector can be made more supportive of health and equity. Policy makers will be engaged with our findings through a Food Policy Summit. Read moreRead less