Most eye diseases have a genetic contribution, whether rare disorders affecting children such as retinoblastoma or congenital cataracts through to common disorders of older people such as myopia, age-related macular degeneration or glaucoma. We will continue our successful research to find genes that cause these diseases and use this to improve patient care and prevent blindness. We will work out how families can use this genetic information to participate in trials to develop new treatments.
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.
Statistical Methods for Discovering Ribonucleic acids (RNAs) contributing to human diseases and phenotypes. Identifying the causative genetic factors involved in quantitative phenotypes and diseases is a major goal of biology in the 21st century and beyond. A crucial step towards this goal is identifying and classifying the functional non-protein-coding Ribonucleic acids (RNAs) encoded in the human genome. This project will make major contributions to international efforts in this area by identi ....Statistical Methods for Discovering Ribonucleic acids (RNAs) contributing to human diseases and phenotypes. Identifying the causative genetic factors involved in quantitative phenotypes and diseases is a major goal of biology in the 21st century and beyond. A crucial step towards this goal is identifying and classifying the functional non-protein-coding Ribonucleic acids (RNAs) encoded in the human genome. This project will make major contributions to international efforts in this area by identifying RNA molecules that contribute to quantitative phenotypes including susceptibility to disease. As such, it will directly benefit fundamental science via the discovery and classification of new molecules. Indirectly, it will lead to breakthroughs in biology, and consequently to major medical and pharmaceutical advances in the diagnosis and treatment of genetic disease.Read moreRead less
ARC Centre of Excellence in Convergent Bio-Nano Science and Technology. The CoE in Convergent Bio-Nano Science &Technology comprises a multi-disciplinary team focused on research aiming to understand and control the interface of materials with biological systems. The Centre will exploit knowledge of the bio-nano interface to design materials that transport and deliver vaccines, drugs and gene therapy agents, and to design new diagnostic agents and devices. Nanomedicines are on the cusp of revol ....ARC Centre of Excellence in Convergent Bio-Nano Science and Technology. The CoE in Convergent Bio-Nano Science &Technology comprises a multi-disciplinary team focused on research aiming to understand and control the interface of materials with biological systems. The Centre will exploit knowledge of the bio-nano interface to design materials that transport and deliver vaccines, drugs and gene therapy agents, and to design new diagnostic agents and devices. Nanomedicines are on the cusp of revolutionizing diagnosis and therapy in many diseases. The CoE will be the focus of bio-nano research activity in Australia, uniting universities, research agencies, institutes and companies. The expected outcomes are better diagnostic and therapeutic tools designed via an enhanced understanding of the bio-nano-interface.Read moreRead less
How does timing affect mammalian brain development and evolution? This project aims to generate fundamental knowledge on the origin of diversity in mammalian brain circuits by studying development of marsupials and rodents. The expected outcome is to elucidate how differences in the timing, rate and sequence of development of gene expression, cell differentiation and circuit formation can relate to the origin of key evolutionary innovations in the mammalian brain. The significance of understandi ....How does timing affect mammalian brain development and evolution? This project aims to generate fundamental knowledge on the origin of diversity in mammalian brain circuits by studying development of marsupials and rodents. The expected outcome is to elucidate how differences in the timing, rate and sequence of development of gene expression, cell differentiation and circuit formation can relate to the origin of key evolutionary innovations in the mammalian brain. The significance of understanding the dynamics of developmental systems that shape complex brain traits includes establishing new developmental paradigms in evolutionary theory, generating new tools to investigate and manipulate brain gene expression in vivo, and the potential discovery of the causes of neurodevelopmental dysfunction.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0668246
Funder
Australian Research Council
Funding Amount
$400,000.00
Summary
Advanced Cell Labelling and Imaging Facility. Understanding the genetic regulation of cellular processes such as migration, differentiation and growth is an important frontier technology with significant biomedical potential. The Australian community is facing an increasing need to provide solutions for a variety of human diseases and disorders, including birth defects, nervous system injury and stroke, and ageing-related conditions. The proposed facility will allow researchers to test in vivo g ....Advanced Cell Labelling and Imaging Facility. Understanding the genetic regulation of cellular processes such as migration, differentiation and growth is an important frontier technology with significant biomedical potential. The Australian community is facing an increasing need to provide solutions for a variety of human diseases and disorders, including birth defects, nervous system injury and stroke, and ageing-related conditions. The proposed facility will allow researchers to test in vivo gene/pharmaceutical therapies as well as to better understand the genetic regulation of normal cellular processes. Read moreRead less
The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have sma ....The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have small effects which makes them hard to identify. The fact that a mutation that has a small effect on a complex trait also has a larger effect on a less complex trait may help us to identify the mutation and use it in agriculture or medicine.Read moreRead less
Integrating Immunity And Genetics In Follicular Lymphoma To Establish A Prognostic Score Fit For The Modern Era
Funder
National Health and Medical Research Council
Funding Amount
$1,377,174.00
Summary
Follicular lymphoma (FL) is divided into early and advanced stages. Early stage FL is frequently cured, but there is no way to identify who will be cured and who won't. By contrast advanced stage FL is incurable. Our unique access to well-annotated clinical trial and population based cohorts allows us to perform a detailed biological comparison of early and advanced FL, to gain a deeper understanding of the impediments to eradicating the disease, and to predict outcome to conventional therapy.
Functional characterization of SSB2: a novel single-stranded DNA binding protein. Defects in the DNA damage response pathway underpin many human genetic disorders and diseases. A detailed understanding of this pathway has enormous implications for future medicine. The proposed research will lead to functional characterization of a new protein, identify new concepts in DNA damage repair pathways, train young researchers and place Australia among the leaders in this internationally significant and ....Functional characterization of SSB2: a novel single-stranded DNA binding protein. Defects in the DNA damage response pathway underpin many human genetic disorders and diseases. A detailed understanding of this pathway has enormous implications for future medicine. The proposed research will lead to functional characterization of a new protein, identify new concepts in DNA damage repair pathways, train young researchers and place Australia among the leaders in this internationally significant and highly competitive area of research. It will underpin the national research priority of Promoting and Maintaining Good Health and help Australia capitalise on a plethora of opportunities for future economic and health benefits.Read moreRead less
Prediction of phenotype for multiple traits from multi-omic data. This project aims to develop better methods for predicting traits in an individual based on their genome sequence. This method will be tested in agricultural animals and plants and in humans. The prediction formula is derived from a training dataset that has information on the traits and genome sequence of a sample of individuals. The prediction formula can then be applied to predict the trait in individuals where the trait is un ....Prediction of phenotype for multiple traits from multi-omic data. This project aims to develop better methods for predicting traits in an individual based on their genome sequence. This method will be tested in agricultural animals and plants and in humans. The prediction formula is derived from a training dataset that has information on the traits and genome sequence of a sample of individuals. The prediction formula can then be applied to predict the trait in individuals where the trait is unknown. This is useful for selecting the best parents for breeding in agriculture and for predicting the future phenotype of animals, crops and people. The proposed method uses data on very many traits to identify sequence variants that have a function and to predict the traits affected by each variant.Read moreRead less