Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
The Healthy Brain Project: A Prospective Cohort Study To Examine How Later-life University Education May Affect The Trajectory Of Ageing-related Cognitive Decline
Funder
National Health and Medical Research Council
Funding Amount
$1,085,742.00
Summary
Previous research has indicated that higher levels of education in early adulthood are associated with lower risk for dementia in older adults. This world-first project will examine if older adults who undertake university education have reduced rates of age-related cognitive decline than older adults who do not undertake further education. This would support the notion that boosting cognitive reserve in later life is protective against age- and disease-related neurodegenerative change.
Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
Cellular mechanisms that protect against copper-bound beta-amyloid. This project will investigate some of the brain’s own mechanisms for protecting itself against Alzheimer’s disease. Understanding these mechanisms will be important for developing future therapeutic strategies for treating Alzheimer’s disease.
The Tasmanian Healthy Brain Project: A Longitudinal Intervention Study To Reduce The Risk Of Ageing-related Cognitive Decline And Dementia
Funder
National Health and Medical Research Council
Funding Amount
$878,792.00
Summary
It has been proposed that engagement in purposeful complex mental stimulation provides protection against dementia. The Tasmanian Healthy Brain Project (THBP) is a unique, large-scale prospective trial that examines whether university-level study in older adult population reduces ageing-related cognitive decline and risk of dementia. This project will also examine how an individual’s genetic profile may influence the potential benefits of complex mental stimulation as well as risk of dementia.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE120100006
Funder
Australian Research Council
Funding Amount
$600,000.00
Summary
An adaptable and dedicated linear accelerator for medical radiation research. Leading radiation scientists developing innovative methods and devices for treating cancer patients will collaborate in future research using this highly adaptable linear accelerator for medical radiation research. Innovations in tumour targeting, better patient safety, new medical devices and improved cancer outcomes are expected.
The Southern Ocean Meridional Overturning Circulation: New observations of vertical mixing. The Southern Ocean and Antarctic Circumpolar Current (ACC) play profound roles in Australian and global climate. However, we know little about how they will be affected by global warming. New velocity observations will tell us how the vertical mixing that contributes to the meridional overturning circulation, and ACC strength, change with the seasons and from year to year. The observations will also gi ....The Southern Ocean Meridional Overturning Circulation: New observations of vertical mixing. The Southern Ocean and Antarctic Circumpolar Current (ACC) play profound roles in Australian and global climate. However, we know little about how they will be affected by global warming. New velocity observations will tell us how the vertical mixing that contributes to the meridional overturning circulation, and ACC strength, change with the seasons and from year to year. The observations will also give us a better understanding of the oceanic and atmospheric processes that drive these changes. This new information will allow climate models to be better constrained so they can more accurately predict changes to Australian and global climate.Read moreRead less
Observations of remarkable eastward flows in the South Indian Ocean. The Indian Ocean drives much of the variability of Australian weather and rainfall and is rapidly evolving. Innovative new observations of remarkable eastward flows in the South Indian Ocean will be combined with models to understand these circulations in a region that has significant economic value for Australia.
Discovery Early Career Researcher Award - Grant ID: DE170101514
Funder
Australian Research Council
Funding Amount
$372,000.00
Summary
The control of neuroplasticity in the brain. This project aims to determine how neuroplasticity – the brain’s ability to remodel and make new circuits – is controlled in both excitatory and inhibitory neurons. This capacity, vital for all cognitive functions, diminishes as people age. It is imperative to determine neuroplasticity’s mechanisms and how and why they change, but it is not known how both excitatory and inhibitory neurons contribute to neuroplasticity and how these dynamic alterations ....The control of neuroplasticity in the brain. This project aims to determine how neuroplasticity – the brain’s ability to remodel and make new circuits – is controlled in both excitatory and inhibitory neurons. This capacity, vital for all cognitive functions, diminishes as people age. It is imperative to determine neuroplasticity’s mechanisms and how and why they change, but it is not known how both excitatory and inhibitory neurons contribute to neuroplasticity and how these dynamic alterations are controlled. Understanding neuroplasticity is vital for learning, memory and healthy ageing throughout life.Read moreRead less
Everyday Heritage. This project aims to uncover everyday but overlooked forms of Australian heritage. Working collaboratively to bridge academic and industry practice, it seeks to develop innovative methods with outcomes expected to include enhanced collaboration between heritage, digital humanities, and historical research, and new resources for communities and the heritage sector. This should provide significant social and cultural benefits such as more inclusive forms of heritage, and broader ....Everyday Heritage. This project aims to uncover everyday but overlooked forms of Australian heritage. Working collaboratively to bridge academic and industry practice, it seeks to develop innovative methods with outcomes expected to include enhanced collaboration between heritage, digital humanities, and historical research, and new resources for communities and the heritage sector. This should provide significant social and cultural benefits such as more inclusive forms of heritage, and broader intellectual and practical understandings of shared history and citizenship. The project will promote public debate on the role of the past in modern Australia through a range of new forms of history and heritage, digital resources and heritage management tools.
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