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
Discovery Early Career Researcher Award - Grant ID: DE220100265
Funder
Australian Research Council
Funding Amount
$417,000.00
Summary
A closed-loop human–agent learning framework to enhance decision making. This project aims to design a foundational human–agent learning framework to augment the decision making process, using reinforcement and closed-loop mechanisms to enable symbiosis between a human and an artificial-intelligence agent. It envisages significant new technologies to promote controllability and efficient and safe exploration of an environment for decision actions – drastically boosting learning effectiveness and ....A closed-loop human–agent learning framework to enhance decision making. This project aims to design a foundational human–agent learning framework to augment the decision making process, using reinforcement and closed-loop mechanisms to enable symbiosis between a human and an artificial-intelligence agent. It envisages significant new technologies to promote controllability and efficient and safe exploration of an environment for decision actions – drastically boosting learning effectiveness and interpretability in decision making. Expected outcomes will benefit national cybersecurity by improving our understanding of vulnerabilities and threats involving decision actions, and by ensuring that human feedback and evaluations can help prevent catastrophic events in explorations of dynamic and complex environments.Read moreRead less
Industrial Transformation Research Hubs - Grant ID: IH180100002
Funder
Australian Research Council
Funding Amount
$5,000,000.00
Summary
ARC Research Hub for Driving Farming Productivity and Disease Prevention. The ARC Research Hub for Driving Farming Productivity and Disease Prevention aims to increase farm production and disease prevention through advancing and transferring new artificial intelligence technologies into industrial deployment. The Hub will combine machine vision, machine learning, software quality control, engineering, biology, and farming industries to develop technologies to build more intelligent systems. Thes ....ARC Research Hub for Driving Farming Productivity and Disease Prevention. The ARC Research Hub for Driving Farming Productivity and Disease Prevention aims to increase farm production and disease prevention through advancing and transferring new artificial intelligence technologies into industrial deployment. The Hub will combine machine vision, machine learning, software quality control, engineering, biology, and farming industries to develop technologies to build more intelligent systems. These dynamic systems will help determine what goal to achieve and the most efficient plan to achieve it. This Hub is expected to contribute to higher farming efficiency, lower production costs and fewer disease risks, giving the Australian industry new business opportunities and an international competitive advantage.Read moreRead less