Most eye diseases have a genetic contribution, whether rare disorders affecting children such as retinoblastoma or congenital cataracts through to common disorders of older people such as myopia, age-related macular degeneration or glaucoma. We will continue our successful research to find genes that cause these diseases and use this to improve patient care and prevent blindness. We will work out how families can use this genetic information to participate in trials to develop new treatments.
Postviral Wheezing In Childhood: Disregulation Of Airway Tone?
Funder
National Health and Medical Research Council
Funding Amount
$577,040.00
Summary
Asthma is a very common childhood condition that is becoming increasingly more common. Wheezing is common in infants and young children following viral infections and is often thought of as the first manifestation of asthma. However, many children and infants who wheeze with viral infections appear to grow out of asthma in their teenage years. Asthma that persists into adult life is usually associated with allergies to common environmental allergens, such as house dust mite and grass pollens. Ho ....Asthma is a very common childhood condition that is becoming increasingly more common. Wheezing is common in infants and young children following viral infections and is often thought of as the first manifestation of asthma. However, many children and infants who wheeze with viral infections appear to grow out of asthma in their teenage years. Asthma that persists into adult life is usually associated with allergies to common environmental allergens, such as house dust mite and grass pollens. However, many infants who wheeze with viral infections, especially in the first year of life, do not develop allergies in later life, raising the possibility that they did not have the same type of asthma as those whose symptoms persist. This project will study the effects of viral infections on lung function to determine whether particular types of virus can have detrimental effects of lung function lasting for years. We will also examine whether the age at which the infection occurs and the severity of the infection influence the long-term outcome. The project involves studying infants during the recovery phase of respiratory viral infections, older children years after documented infections and experimental animal models that have been infected under controlled conditions. By determining whether respiratory viral infections can have long-term effects on lung function that can mimic asthma, we will advance our understanding of how asthma develops. In addition, specific treatment and preventative strategies could then be developed to prevent these long-term abnormalities, instead of relying on asthma medication (especially inhaled corticosteroids) as is the current practice. Preventative strategies could include encouraging the development of specific vaccines.Read moreRead less
Evaluating The Genetic Contribution To Rheumatic Heart Disease Pathogenesis In Australian Aboriginal And Torres Strait Islander Communities
Funder
National Health and Medical Research Council
Funding Amount
$1,782,074.00
Summary
Rheumatic heart disease is highly prevalent in Aboriginal people in Australia and leads to early cardiac disease. Despite decades of research, the underlying genetic mechanisms for why it occurs are not well understood. We are conducting a genetic study to better understand why some people are susceptible to RHD and others are not. The study will involve substantial Aboriginal leadership and consultation and will be a model for the conduct of genetic studies in Aboriginal populations.
The Long-term Consequences Of Assisted Reproduction On The Growth, Metabolic, Respiratory, Psychological, Immunological And Reproductive Development Of The Offspring.
Funder
National Health and Medical Research Council
Funding Amount
$1,552,096.00
Summary
1 in 25 children are born from IVF treatment - incredibly- to our shame; no data exists as to the long-term health of these children. Presented is a unique opportunity, which would be exceedingly difficult to replicate elsewhere in the world, to determine the long-term consequences of IVF upon the development of the offspring, by comparing their growth, metabolic, respiratory, psychological, immunological and reproductive development to a representative sample of WA children- the Raine cohort.
Enhancing Grain Yield Potential and Quality of Lupin. Sustainability of wheat production in Western Australia depends on the continued use of legumes, specifically lupins, in farming systems. The low returns to growers for lupins has jeopardised these sustainable systems. This project aims to gather new information to develop novel genetic strategies to increase yield potential and modify seed composition in lupins, enhancing their commercial worth.
Young Adult Myopia: Genetic And Environmental Associations
Funder
National Health and Medical Research Council
Funding Amount
$809,271.00
Summary
Myopia affects 80% of school leavers in the cities of East Asia, 45% of Asian Australian school leavers and is probably on the rise in European Australian adolescents. Increased levels of education and lack of time outdoors are known to increase the risk of myopia. We will examine 2,000 young adults to find the genes that interact with these risk factors. In addition to confirming when these risk factors are most important, identifying molecular pathways opens the avenue of new treatments.
Genome-wide Association Study (GWAS) For Juvenile-onset Myopia And Its Component Measures To Identify Molecular Pathways To Prevent Myopia
Funder
National Health and Medical Research Council
Funding Amount
$495,364.00
Summary
We will examine 2,000 young adults from the Western Australian Raine Cohort at the Lions Eye Institute / University of Western Australia. Ocular data will be collected relating to myopia (short-sightedness) and will be combined with extensive previous childhood and genetic research data collected on the Cohort, to investigate the genetic and environmental factors predisposing to myopia. This will assist in understanding the factors leading to myopia.
One of the current challenges in public health is to translate the progress from the Human Genome Project into reduced morbidity and mortality from disease. Once genetic defects are characterised, knowledge about the variability in severity of disease in mutation carriers, is important from a public health perspective. Hereditary Haemochromatosis (HH) is a common genetic disorder of iron overload that results in a wide spectrum of disease, varying from non-specific symptoms to severe damage to l ....One of the current challenges in public health is to translate the progress from the Human Genome Project into reduced morbidity and mortality from disease. Once genetic defects are characterised, knowledge about the variability in severity of disease in mutation carriers, is important from a public health perspective. Hereditary Haemochromatosis (HH) is a common genetic disorder of iron overload that results in a wide spectrum of disease, varying from non-specific symptoms to severe damage to liver, heart, pancreas and joints from iron deposition. It is easily treatable by regular blood donation, and population-based screening for HH has therefore been advocated. In this study we aim to address gaps in the existing data on HH regarding dietary and lifestyle factors that contribute to the variable clinical picture of HH. The study will be based on the Melbourne Collaborative Cohort Study, a cohort of 31,500 men and women who have been followed for approximately 10 years. Information on dietary and lifestyle factors was collected at initial enrollment, along with a blood specimen. We will test all non-Southern European participants (31,176) for the common HH mutations in the HFE gene and then select a subgroup of 1150 people, including all people with the main genetic defect as well as a comparison group, for further clinical followup. Participants will have genetic counselling and informed consent will be obtained. Participants will complete a short questionnaire and give a blood sample for measurement of iron overload, liver function, and other relevant blood tests, then undergo a brief clinical examination. Results of all tests will be given at a followup visit by genetic counsellor or physician. This study will provide important data on natural history of HH risk factors that influence variability in clinical presentation and the association of HFE mutations with chronic diseases and all cause mortality.Read moreRead less
Brassica genome organisation and evolution: unlocking the potential of using genome-specific repetitive elements for crop improvement. Introgression of chromosome segments from related Brassica species provides an opportunity to develop locally adapted varieties with improved agronomic and quality traits. There is a need to understand Brassica genome organisation and how this information can be used for enhancing the efficiency of cultivar development. Dispersed and tandem repetitive DNA sequen ....Brassica genome organisation and evolution: unlocking the potential of using genome-specific repetitive elements for crop improvement. Introgression of chromosome segments from related Brassica species provides an opportunity to develop locally adapted varieties with improved agronomic and quality traits. There is a need to understand Brassica genome organisation and how this information can be used for enhancing the efficiency of cultivar development. Dispersed and tandem repetitive DNA sequences provide valuable information on the organisation and evolution of plant chromosomes. Methods for monitoring chromosome segment transfer across Brassica species will be developed based on detecting and quantifying genome-specific repetitive DNA sequences. Australian Brassica improvement programs could benefit from this research by adopting methods to detect chromosome segment transfer during interspecific hybridisation.Read moreRead less
A shared genetic basis for development of the nervous system and glands. Fruit flies possess strikingly similar versions of the genes that promote normal human development. The list of systems with genetic parallels between humans and fruit flies includes the respiratory and circulatory systems; cardiovascular development and disease; sleep; learning and memory; brain development and disease; taste, sight, smell and hearing. This project could add at least some human glands, the mucous-secreting ....A shared genetic basis for development of the nervous system and glands. Fruit flies possess strikingly similar versions of the genes that promote normal human development. The list of systems with genetic parallels between humans and fruit flies includes the respiratory and circulatory systems; cardiovascular development and disease; sleep; learning and memory; brain development and disease; taste, sight, smell and hearing. This project could add at least some human glands, the mucous-secreting goblet cells, to this list, providing a potentially useful model for studying human diseases associated with gland dysfunction. Read moreRead less