Genome-wide Association Study (GWAS) For Juvenile-onset Myopia And Its Component Measures To Identify Molecular Pathways To Prevent Myopia
Funder
National Health and Medical Research Council
Funding Amount
$495,364.00
Summary
We will examine 2,000 young adults from the Western Australian Raine Cohort at the Lions Eye Institute / University of Western Australia. Ocular data will be collected relating to myopia (short-sightedness) and will be combined with extensive previous childhood and genetic research data collected on the Cohort, to investigate the genetic and environmental factors predisposing to myopia. This will assist in understanding the factors leading to myopia.
The Role Of GRHL-3, A Mammalian Homologue Of Drosophila Grainyhead, In Neural Tube Development
Funder
National Health and Medical Research Council
Funding Amount
$496,500.00
Summary
Spina bifida and anencephaly are two common human congenital malformations that form part of a wide spectrum of mutations known collectively as neural tube defects (NTDs). Patients with the most severe form of spina bifida have a failure of the vertebral column and skin to close over the spinal cord and therefore suffer from limb paralysis and marked bladder and bowel dysfunction. Infants with anencephaly have an open cranial vault and failure of normal brain development and die within the first ....Spina bifida and anencephaly are two common human congenital malformations that form part of a wide spectrum of mutations known collectively as neural tube defects (NTDs). Patients with the most severe form of spina bifida have a failure of the vertebral column and skin to close over the spinal cord and therefore suffer from limb paralysis and marked bladder and bowel dysfunction. Infants with anencephaly have an open cranial vault and failure of normal brain development and die within the first few hours of life. These abnormalities occur frequently (1-1000 live births) and are a direct result of failure of the neural tube to close during embryogenesis. NTDs are influenced by both environmental and genetic factors. The best characterised environmental factor is the dietary supplement folate, which when administered before conception results in a reduction in the incidence of spina bifida. The genetic complexity is evidenced by the array of mouse genetic mutations that give rise to NTDs. One of these mouse mutations, known as Curly tail (ct), has served as the major animal model of human NTDs. This is because the ct mice are resistant to folate administration (like most of the cases of spina bifida currently seen in patients) and because the mice seem to have normal development in virtually all other organ systems. Ironically, the genetic mutation that causes the curly tail phenotype has remained undiscovered for over 50 years. We have now identified the gene mutated in the curly tail mice. This gene is highly conserved in humans suggesting that it will play a similar role in neural tube development in man. The gene, known as GRHL-3, is a descendant of a fly gene critical for development of the nervous system in that organism. The studies we propose here will examine the developmental pathways involved in normal neural tube closure in mice and humans and will impact on our understanding of these devastating congenital malformations.Read moreRead less
A Universal Power Law for Growth and Diversity of Dinosaur and Bird Beaks. Universal rules that govern how animals grow have tremendous power to explain the highly complex processes of growth and development. The project investigators have recently discovered a new rule of growth that controls how teeth, horns, claws and beaks are generated in animals. This project aims to use this new rule to examine the evolution and diversity of beaks in birds and dinosaurs. By combining 3D modelling, biomech ....A Universal Power Law for Growth and Diversity of Dinosaur and Bird Beaks. Universal rules that govern how animals grow have tremendous power to explain the highly complex processes of growth and development. The project investigators have recently discovered a new rule of growth that controls how teeth, horns, claws and beaks are generated in animals. This project aims to use this new rule to examine the evolution and diversity of beaks in birds and dinosaurs. By combining 3D modelling, biomechanics and genetic analysis of bird beak development with the study of dinosaur fossils, this project expects to reveal the underlying processes controlling the growth and evolution of beaks. The anticipated goal of this project is to show the power of new theoretical models to explain the diversity of life.Read moreRead less
An Examination Of Motor Functioning In Autism And Asperger's Disorder: An Analysis Of Gait & Cortical Brain Activity.
Funder
National Health and Medical Research Council
Funding Amount
$120,220.00
Summary
Autism is a developmental disorder characterised by a triad of deficits: delayed and atypical language development, impaired development of social skills, and ritualistic and stereotypic behaviour. Although not part of the standard diagnosis, movement disorders and gait abnormalities have been clinically observed in autism similar to those seen in Parkinson's disease. In addition, individuals with Asperger's disorder may appear more clumsy, have a stiff or awkward way of walking, and exhibit poo ....Autism is a developmental disorder characterised by a triad of deficits: delayed and atypical language development, impaired development of social skills, and ritualistic and stereotypic behaviour. Although not part of the standard diagnosis, movement disorders and gait abnormalities have been clinically observed in autism similar to those seen in Parkinson's disease. In addition, individuals with Asperger's disorder may appear more clumsy, have a stiff or awkward way of walking, and exhibit poor coordination in posture and gesture. It has been suggested that there is disruption within the basal-ganglia-thalamocortical circuitry (the region connecting the frontal and sub-cortical structures), which may cause the motor dysfunction seen in autism and Asperger's disorder. Few studies have attempted to isolate particular stages of motor functioning which may account for the coordination and motor delay observed clinically in autism and Asperger's disorder. A recent study of ours found evidence to suggest that motor planning deficiencies may account for the 'clumsy' movement patterns frequently reported in the autism - Asperger's disorder literature. Therefore, the aim of this research is to provide a comprehensive neurobehavioural and neurophysiological analysis of motor functioning in young people with autism and Asperger's disorder to further examine the exact stages of motor processing which are deficient in these disorder groups. Recent retrospective studies have shown that even as infants children with autism exhibit clear features of motor disturbance, which, if detected and clearly defined, could advance early diagnosis. In addition to advancing the clinical definition of autism and Asperger's disorder, a careful examination of motor disturbance may also illuminate the neurobiological underpinnings of these disorders.Read moreRead less
Developing the dunnart as a marsupial model for conservation research. The Australian bushfire crisis of 2020 has taken an enormous toll on our unique wildlife. With no halt in sight to rising global temperatures, more extreme weather events are predicted to increase in frequency and severity. We simply must act now to preserve our unique native mammals in Australia and safeguard against species loss and irreversible declines in genetic diversity. This project will develop methods for the genera ....Developing the dunnart as a marsupial model for conservation research. The Australian bushfire crisis of 2020 has taken an enormous toll on our unique wildlife. With no halt in sight to rising global temperatures, more extreme weather events are predicted to increase in frequency and severity. We simply must act now to preserve our unique native mammals in Australia and safeguard against species loss and irreversible declines in genetic diversity. This project will develop methods for the generation and preservation of stem cells from a range of our most endangered and vulnerable marsupial species. These cells not only allow us to ‘bank’ species and genetic diversity but also provide a route to enabling genetic manipulation, opening up a completely new niche for conservation biology in marsupials.Read moreRead less
The genetic basis of leaf lamina establishment and growth. This study will help reveal how the development of leaves is coordinated by tissue patterning genes and the plant growth hormone auxin. All plants grow in this way, and the findings, made using a model laboratory plant, will be applicable to crop species as well.
The evolution of the alternation of generations in land plants. This project aims to investigate how a genetic system, comprised of a homeodomain protein encoding gene family controlling the haploid to diploid transition, has evolved during land plant evolution.
The project expects to generate new knowledge concerning the evolution of land plants from which our food and fibre are derived.
The intended outcomes include an elucidation of how an ancestral genetic network was elaborated during the e ....The evolution of the alternation of generations in land plants. This project aims to investigate how a genetic system, comprised of a homeodomain protein encoding gene family controlling the haploid to diploid transition, has evolved during land plant evolution.
The project expects to generate new knowledge concerning the evolution of land plants from which our food and fibre are derived.
The intended outcomes include an elucidation of how an ancestral genetic network was elaborated during the evolution of a multicelluar organism, including the retention of ancestral functions and the origins of new functions.
An anticipated benefit is the ability to manipulate the the growth and development of plants based on fundamental principles, which has broad agricultural implications.Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE140100190
Funder
Australian Research Council
Funding Amount
$388,600.00
Summary
Tracing the Evolutionary History of Plant Developmental Mechanisms. Knowledge of the evolutionary history of genes involved in developmental processes provides a foundation for understanding how genetic networks were established and how their manipulation may influence plant growth and form. Genetic programs that direct growth and development in response to light will be examined functionally in Marchantia, a liverwort. Liverworts hold a key position in plant evolution as the sister group to all ....Tracing the Evolutionary History of Plant Developmental Mechanisms. Knowledge of the evolutionary history of genes involved in developmental processes provides a foundation for understanding how genetic networks were established and how their manipulation may influence plant growth and form. Genetic programs that direct growth and development in response to light will be examined functionally in Marchantia, a liverwort. Liverworts hold a key position in plant evolution as the sister group to all other land plants and possess many attributes reminiscent of the ancestral land plant. This project is expected to reveal some of the ancestral mechanisms for how light regulates plant form via the hormone auxin and could, in the future, aid the precise design of plants for diverse agricultural applications.Read moreRead less
The origin and evolution of the land plant meristem. This project aims to identify the extent of overlap between the genetic determinants of the gametophyte and sporophyte shoot meristems.
The project expects to generate new knowledge of the evolution and development of land plants by applying comparative genomics and new technologies to a novel model genetic system.
Expected outcomes include an elucidation of the genetic basis for one of the key morphological adaptations for life on land.
Th ....The origin and evolution of the land plant meristem. This project aims to identify the extent of overlap between the genetic determinants of the gametophyte and sporophyte shoot meristems.
The project expects to generate new knowledge of the evolution and development of land plants by applying comparative genomics and new technologies to a novel model genetic system.
Expected outcomes include an elucidation of the genetic basis for one of the key morphological adaptations for life on land.
The ability to manipulate the growth and development of plants via the activity of meristems based on fundamental principles has broad agricultural implications.
Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE180100306
Funder
Australian Research Council
Funding Amount
$365,058.00
Summary
Does spurious maternal-fetal signalling support the evolution of a placenta. This project aims to test a model that explains how the placenta has evolved as a new organ more than 100 times in fishes, reptiles, and mammals including our own ancestors. The project will assess whether regulatory components of the placenta evolve as a result of spurious maternal-fetal signalling following egg retention and eggshell loss in viviparous reptiles. Expected outcomes of this project include a new understa ....Does spurious maternal-fetal signalling support the evolution of a placenta. This project aims to test a model that explains how the placenta has evolved as a new organ more than 100 times in fishes, reptiles, and mammals including our own ancestors. The project will assess whether regulatory components of the placenta evolve as a result of spurious maternal-fetal signalling following egg retention and eggshell loss in viviparous reptiles. Expected outcomes of this project include a new understanding of how complex organs originate and evolve in animals. This will benefit society through a broader depth of understanding of our own evolutionary history and provides a framework for future studies to investigate the origin and evolution of organs more broadly in animals.Read moreRead less