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
High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
Translating Genetic Determinants Of Glaucoma Into Better Diagnosis And Treatment
Funder
National Health and Medical Research Council
Funding Amount
$9,466,000.00
Summary
Glaucoma is the leading cause of irreversible blindness worldwide. By 2020, it will affect 80 million people, and in Australia over the next decade, the overall cost of glaucoma will reach $4.3 billion per annum. This Program will use genetic advances to personalise treatment. Blindness will be prevented in individuals at highest risk, new ways to treat patients will be developed, and better outcomes for patients will result from less treatment and monitoring of low risk cases.
Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from af ....Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from affected individuals we will then be in a position to look for mutations in other family members and identify those individuals at risk of developing disease. Improvements in our understanding of how these genes are involved in disease causation will allow us to offer diagnostic testing to the wider community and develop better therapeutic interventions for treatment.Read moreRead less
A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Identifying Glaucoma Risk Variants In The Norfolk Island Genetic Isolate
Funder
National Health and Medical Research Council
Funding Amount
$658,447.00
Summary
Primary open angle glaucoma is the most common form of glaucoma. In this project we will focus on the identification of functional genetic variants influencing development of this disorder, using a powerful whole exome sequencing approach in a large multigenerational pedigree from the Norfolk Island population isolate. The identification of genes influencing glaucoma development would provide invaluable clues to aid in defining the pathophysiology of this common disease.
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.
Engaging science students' hearts and minds: Researching science teachers' professional learning in the development of contemporary understandings of scientific literacy. This project will develop, support and value the work of science teachers in developing students' scientific literacy and share the subsequent knowledge gains in the educational community to positively advance quality teaching and learning in school science. Improving science teaching and learning hinges on offering new ways of ....Engaging science students' hearts and minds: Researching science teachers' professional learning in the development of contemporary understandings of scientific literacy. This project will develop, support and value the work of science teachers in developing students' scientific literacy and share the subsequent knowledge gains in the educational community to positively advance quality teaching and learning in school science. Improving science teaching and learning hinges on offering new ways of responding to the problems inherent in teaching science in the 21st century. By supporting and encouraging the creative and innovative ideas, concepts and approaches to quality science teaching and learning embedded in teachers' professional learning the development of the critical knowledge for challenging the status-quo will be advanced.Read moreRead less
Primary classroom teacher-student interactions, cultural learning environments and their relationships with students' attitudes and understanding of science concepts. This project examines associations between teacher-student interactions and primary students' perceptions of cultural factors of learning environments with students' attitudes towards science and their understanding of science concepts. In the tradition of classroom environment research, the study will use interviews and questionna ....Primary classroom teacher-student interactions, cultural learning environments and their relationships with students' attitudes and understanding of science concepts. This project examines associations between teacher-student interactions and primary students' perceptions of cultural factors of learning environments with students' attitudes towards science and their understanding of science concepts. In the tradition of classroom environment research, the study will use interviews and questionnaires to obtain students' perceptions of their primary classrooms. In-depth studies will then be made of particular classrooms with the aim of enhancing the description of primary school science teaching. The project will lead to a systematic understanding of what is happening in primary school science and a direction for teachers to implement desirable changes in their teaching.Read moreRead less