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
Epilepsy: Molecular Basis And Mechanisms In The Era Of Functional Genomics
Funder
National Health and Medical Research Council
Funding Amount
$12,062,533.00
Summary
The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these stud ....The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these studies. This will include extensive laboratory studies, including the development of mice with the exact mutations that we find in the human condition. Stateof-the-art imaging techniques with magnetic resonance and positron emission tomography are used in human subjects to further understand the effects of the mutations on the structure and function of the brain. This will allow deep understanding of how seizures develop and may lead to new diagnostic methods and treatments. The laboratory and clinical aspects of the research are tightly integrated in this internationally leading collaborative program.Read moreRead less
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.
Understanding the evolution of the alternation of generations in the land plant life cycle. This project will investigate the genetic basis and evolution of the land plant life cycle, in which both haploid and diploid phases consist of complex multicellular bodies. The project's findings, which will be made using two model laboratory plants, will be applicable to all plants and will help understand important processes such as pollen and seed production.
The genetic regulation of organogenesis: endoderm development in the Drosophila embryo. Embryonic development is an important research field in biology, not only for its extraordinary complexity but also because of the insights it provides into molecular processes that underpin a variety of diseases. This project aims to discover genes and molecules that regulate the normal development of one of the most important organs, the gut.
Fisheries genomics of snapper in Australia and New Zealand Waters. This industry-driven project aims to assemble a strategic research alliance to generate and apply knowledge to a highly significant fisheries resource. It involves collaboration between the five major state government fisheries agencies in Australia, the New Zealand’s Crown Research Institute for seafood and two Australian labs with leadership in fish genetics and genomics. It expects to generate and integrate genomic, environmen ....Fisheries genomics of snapper in Australia and New Zealand Waters. This industry-driven project aims to assemble a strategic research alliance to generate and apply knowledge to a highly significant fisheries resource. It involves collaboration between the five major state government fisheries agencies in Australia, the New Zealand’s Crown Research Institute for seafood and two Australian labs with leadership in fish genetics and genomics. It expects to generate and integrate genomic, environmental and phenotypic datasets for snapper populations from across vast coastal regions of the two countries. The outcomes should substantially enhance intra- and inter-jurisdictional fisheries management and aquaculture initiatives, providing commercial, social and environmental benefits for many stakeholders.Read moreRead less
Potential of gene drives to eliminate incursions of Drosophila suzukii. This project aims to test the efficacy and evolutionary stability of different types of gene drives, and model whether gene drives can be used to eliminate incursions of Drosophila suzukii into Australia. It is now possible to use genome editing technology to alter populations of organisms using ‘gene drives’. Multiple strategies have been conceived with a major distinction between those that aim to eliminate populations ver ....Potential of gene drives to eliminate incursions of Drosophila suzukii. This project aims to test the efficacy and evolutionary stability of different types of gene drives, and model whether gene drives can be used to eliminate incursions of Drosophila suzukii into Australia. It is now possible to use genome editing technology to alter populations of organisms using ‘gene drives’. Multiple strategies have been conceived with a major distinction between those that aim to eliminate populations versus those that aim to modify populations. This project will examine these strategies in two fly species, the model, Drosophila melanogaster and the devastating pest of horticulture, Drosophila suzukii. The project expects to assess a gene drive strategy to control the invasive pest that threatens the Australian soft-skinned fruit industries.Read moreRead less
Reconstructing wheat evolution using ancient DNA. The domestication of wild grasses by farmers was a step change in human history; it led to the emergence of modern cereals and with them, western civilisation. This project will apply modern DNA sequencing methods to 5000-year-old cereal seeds to reconstruct the history of wheat, barley and other crops, and identify lost ancient forms and diversity.
New insulins for the improved management of diabetes. The prevalence of diabetes has increased dramatically over the past few decades and now this condition is widely considered the world’s fastest growing disease. New insulins with improved pharmacological and storage properties are desperately needed, and this project will work on chemical synthesis enabling designer insulins to be prepared for improved management of diabetes.
Hippo signalling control of transcription in lymphatic vascular development. Lymphatic vasculature forms complex, branched networks present in almost all vertebrate tissues and organs. Signalling in lymphatic endothelial cells determines the fate, structure and function of these complex and essential networks. This project follows our recent discovery of a major role for the Hippo signalling pathway in lymphatic vascular development. It aims to investigate how Hippo signalling regulates essenti ....Hippo signalling control of transcription in lymphatic vascular development. Lymphatic vasculature forms complex, branched networks present in almost all vertebrate tissues and organs. Signalling in lymphatic endothelial cells determines the fate, structure and function of these complex and essential networks. This project follows our recent discovery of a major role for the Hippo signalling pathway in lymphatic vascular development. It aims to investigate how Hippo signalling regulates essential target genes that drive lymphatic development. The project expects to generate fundamental knowledge in vascular signalling, transcription and the control of vascular network growth and expansion. Outcomes may provide significant benefits in new approaches in stem cell biology, tissue engineering and regenerative biology. Read moreRead less