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
A novel regulator of growth signalling in Drosophila. This project aims to increase understanding of how growth is regulated by growth factor hormones. In animals, growth is controlled by signalling pathways that are activated by secreted peptide hormones. A new regulator of growth in the fruitfly Drosophila, the membrane attack complex/perforin-like (MACPF) protein Torso-like, has been identified. The project aims to unravel how Torso-like functions to regulate growth, thus throwing light on th ....A novel regulator of growth signalling in Drosophila. This project aims to increase understanding of how growth is regulated by growth factor hormones. In animals, growth is controlled by signalling pathways that are activated by secreted peptide hormones. A new regulator of growth in the fruitfly Drosophila, the membrane attack complex/perforin-like (MACPF) protein Torso-like, has been identified. The project aims to unravel how Torso-like functions to regulate growth, thus throwing light on the role this protein family may play in all animals. The findings are expected to provide key insights into the modification of growth factor activity, which is often dysregulated in human cancers and growth disorders, and may enable the design of new strategies for interfering with insect development for pest control.Read moreRead less
Lost at sea? Understanding adaptation and dispersal in spiny lobsters. Continual recruitment of young is fundamental to the replenishment of populations, especially when a stock is fished. Existing theory suggests that species with very long planktonic larval stages disperse widely, ensuring their genes are well mixed. However, recently identified genetic differences between populations of rock lobster challenge this paradigm and demonstrate that despite larvae mixing in the ocean for years, loc ....Lost at sea? Understanding adaptation and dispersal in spiny lobsters. Continual recruitment of young is fundamental to the replenishment of populations, especially when a stock is fished. Existing theory suggests that species with very long planktonic larval stages disperse widely, ensuring their genes are well mixed. However, recently identified genetic differences between populations of rock lobster challenge this paradigm and demonstrate that despite larvae mixing in the ocean for years, local recruitment and/or adaptation are at play. Recent developments in genomics and bioinformatics should allow this project to understand the ecological processes underpinning these genetic signatures and determine their evolutionary implications. Such findings could direct targeted rebuilding of depleted fisheries stocks.Read moreRead less
Critical windows: understanding changes in eating and physical activity over the transition from secondary school to young adulthood. This project will explain changes in eating, physical activity and sedentary behaviour during the critical period of transition from secondary school to young adulthood. It will provide important information on how we can assist adolescents to maintain a healthy lifestyle over a time characterised by several major life changes.
Cellular genomic approach to the pathogenesis of multiple sclerosis. This project compares the levels of gene usage in two important immune cell types between patients with multiple sclerosis and people who do not have the disease. It aims to identify the molecular basis for the disease, in order to identify new diagnostic, preventative and treatment options.
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.
The effects of maternal attachment, marital satisfaction and sensitivity to infants on infants attachment and adjustment: A longitudinal-structural equation study. This study will examine how family and attachment factors effect the adjustment of infant at 24 months of age. A longitudinal study, using structural equation method, will examine how maternal attachment and marital satisfaction when infants are 4 months of age will effect maternal parenting behaviors two months later, and how all thr ....The effects of maternal attachment, marital satisfaction and sensitivity to infants on infants attachment and adjustment: A longitudinal-structural equation study. This study will examine how family and attachment factors effect the adjustment of infant at 24 months of age. A longitudinal study, using structural equation method, will examine how maternal attachment and marital satisfaction when infants are 4 months of age will effect maternal parenting behaviors two months later, and how all three of these measures will effect infant attachment 6 months later. It will then examine how all four of these measures will effect the adjustment of infants 12 months later. The study will have important implications for early intervention and prevention of psychological problems in infants and children.Read moreRead less
Transforming Tourists' Antarctic Experience. With the Antarctic tourist industry currently growing and diversifying, the project aims to discover how cruise operators can foster positive and culturally informed relationships with the region among visitors of different national backgrounds. Through extensive in-situ fieldwork with partner Intrepid Travel, the project expects to generate new understandings of how operators' active mediating role combines with multisensory experience of Antarctica ....Transforming Tourists' Antarctic Experience. With the Antarctic tourist industry currently growing and diversifying, the project aims to discover how cruise operators can foster positive and culturally informed relationships with the region among visitors of different national backgrounds. Through extensive in-situ fieldwork with partner Intrepid Travel, the project expects to generate new understandings of how operators' active mediating role combines with multisensory experience of Antarctica to forge human connections with this extreme but fragile place. Anticipated outcomes include protocols for best practice in designing and implementing tourist experiences. By encouraging diverse visitors to value Antarctica, the project should benefit both operators and the polar environment.Read moreRead less
Convicts and Diggers: a demography of life courses, families and generations. Based on convict records, birth, death and marriage registrations, World War One service records, and other historical data, this project explores long-term demographic outcomes of individuals, families and lineages. The project draws on the expertise of family historians to trace individuals and their descendants for 'Australia's biggest family history'.