Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
Understanding How Language And Reading Problems Develop: A Population-based Longitudinal Study From Infancy To Age 7
Funder
National Health and Medical Research Council
Funding Amount
$667,507.00
Summary
Early language and reading problems are common and therefore significant public health problems. They are disabling and have life-long implications for oral and written communication skills, social and emotional well-being, cognition, behaviour, academic achievement and employment. This study will address the following three problems: 1. To date no study has documented how language and reading problems develop from infancy (8 months) through to school age (7 years). 2. Little is known about risk ....Early language and reading problems are common and therefore significant public health problems. They are disabling and have life-long implications for oral and written communication skills, social and emotional well-being, cognition, behaviour, academic achievement and employment. This study will address the following three problems: 1. To date no study has documented how language and reading problems develop from infancy (8 months) through to school age (7 years). 2. Little is known about risk factors, identified early in infancy and childhood, that can be reliably used to predict language and reading problems later in childhood. 3. The relationships between language difficulties and reading problems are poorly understood. Therefore, we currently have no satisfactory methods for reliably detecting which children at much younger ages are at risk of later language disorders or reading problems. Without this information it is impossible to develop effective prevention and early intervention programs. These programs are critical if we are to: a) Prevent language and reading problems from occurring, thereby reducing the prevalence of the problem b) Intervene early in childhood, thereby reducing in the longer term the burden and cost associated with language and reading problems. The proposed study builds on an existing substantial investment by the NHMRC in the Early Language in Victoria Study (ELVS). It will provide a world-first description of the evolution of language difficulties and reading problems from infancy through to school age within a single population cohort.Read moreRead less
New, Efficient Tests That Map Both Central and Peripheral Vision. This project seeks to develop a new, combined approach for quantifying both central and peripheral vision with a single test. Current methods for testing far peripheral vision are not efficient and not fully automated. Yet peripheral vision is important for tasks involving navigation and hazard avoidance such as driving. The project intends to invent and test new approaches to sampling and measuring the spatial extent of vision. T ....New, Efficient Tests That Map Both Central and Peripheral Vision. This project seeks to develop a new, combined approach for quantifying both central and peripheral vision with a single test. Current methods for testing far peripheral vision are not efficient and not fully automated. Yet peripheral vision is important for tasks involving navigation and hazard avoidance such as driving. The project intends to invent and test new approaches to sampling and measuring the spatial extent of vision. The anticipated algorithms will be more accurate and efficient than current tests, will be suitable for older adults, and will enable ready assessment of vision for occupational tasks.Read moreRead less
Exploiting high resolution images of the retina to customise vision tests. This project will make vision tests more accurate and faster by using a person's individual eye anatomy to customise the test. The basic understandings discovered in this project are expected to be applied in clinical and research settings thus saving sight, dollars and time.