Identifying The Pathological Mechanism Of PCDH19-Girls Clustering Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$523,988.00
Summary
Changes in the PCDH19 gene are a relatively common cause of epilepsy. To better understand the basis of this disorder, we have developed unique mouse models that mimic the genetic changes and symptoms of this condition. We will perform careful analysis of brain development in these models to determine the primary cause of this condition. These experiments will create greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.
Evolution of the dermomyotome in vertebrates. The project seeks to understand how different muscle populations within the embryo form and have evolved within the vertebrate phylogeny. All amniote muscles, except that of the head, derive from a transient embryonic structure termed the dermomyotome. The formation of muscle from the dermomyotome of amniotes uses a highly conserved mechanism that is distinct from that deployed by bony fish and amphibians. How the dermomyotome evolved to generate th ....Evolution of the dermomyotome in vertebrates. The project seeks to understand how different muscle populations within the embryo form and have evolved within the vertebrate phylogeny. All amniote muscles, except that of the head, derive from a transient embryonic structure termed the dermomyotome. The formation of muscle from the dermomyotome of amniotes uses a highly conserved mechanism that is distinct from that deployed by bony fish and amphibians. How the dermomyotome evolved to generate the distinct types of locomotor systems we see deployed throughout the vertebrate phylogeny remains unresolved. This project aims to contribute to an understanding of how different locomotor strategies deployed at important evolutionary transitions were generated.Read moreRead less
Fins to Limbs: Investigating the Evolution of complex Limb Musculature. This application aims to investigates the basis of the fin-to-limb transition, an event that set the stage for the entire tetrapod radiation. This project expects to generate new knowledge concerning the natural history of vertebrates using a multidisciplinary approach that combines paleontology and embryology of unique Australian fauna. While the skeletal changes associated with the move from water to land have been investi ....Fins to Limbs: Investigating the Evolution of complex Limb Musculature. This application aims to investigates the basis of the fin-to-limb transition, an event that set the stage for the entire tetrapod radiation. This project expects to generate new knowledge concerning the natural history of vertebrates using a multidisciplinary approach that combines paleontology and embryology of unique Australian fauna. While the skeletal changes associated with the move from water to land have been investigated, little is known about the origin of tetrapod limb muscles. This proposal has as an expected outcome, a determination of how limb muscles arose during evolution. This knowledge should provide significant benefits by transforming our understanding of the origins of the tetrapod body plan and our own natural history.Read moreRead less
The Epigenetics of Sex in the Dragon. Genetic codes do not directly translate to phenotypes -- environment acts through epigenetics to modify development. We use advanced molecular techniques to examine how epigenetics responds to temperature to reverse sex in our novel animal model, the dragon lizard. How does the cell sense temperature? Once the extrinsic signal is captured, how does it influence chromatin modification to release or suppress key genes in the sex differentiation pathway? Which ....The Epigenetics of Sex in the Dragon. Genetic codes do not directly translate to phenotypes -- environment acts through epigenetics to modify development. We use advanced molecular techniques to examine how epigenetics responds to temperature to reverse sex in our novel animal model, the dragon lizard. How does the cell sense temperature? Once the extrinsic signal is captured, how does it influence chromatin modification to release or suppress key genes in the sex differentiation pathway? Which sex genes are targets? Epigenetic enzymes are astonishingly conserved, providing exciting opportunities to draw from human systems to unravel novel signatures of temperature-induced sex switching in reptiles. This project will advance knowledge of developmental programming generally.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE180100056
Funder
Australian Research Council
Funding Amount
$621,198.00
Summary
High-frequency ultrasound and photoacoustic imaging for Western Australia. This project aims to obtain a small animal, high-frequency ultrasound and photoacoustic imaging instrument, to be placed in the University of Western Australia's Centre for Microscopy, Characterisation and Analysis. As a node of the National Imaging Facility, this infrastructure will result in enhanced capacity for fundamental, interdisciplinary, biological, and bionanotechnology research in Western Australia, and enable ....High-frequency ultrasound and photoacoustic imaging for Western Australia. This project aims to obtain a small animal, high-frequency ultrasound and photoacoustic imaging instrument, to be placed in the University of Western Australia's Centre for Microscopy, Characterisation and Analysis. As a node of the National Imaging Facility, this infrastructure will result in enhanced capacity for fundamental, interdisciplinary, biological, and bionanotechnology research in Western Australia, and enable pursuit of projects previously only possible either interstate or internationally. New capacity in small animal in-vivo imaging will generate knowledge in biology, feeding into such areas as species conservation and reproductive health, and intellectual property and commercial opportunity in areas such as medical imaging and theranostics.Read moreRead less
Intergenerational Prediction of Social and Early Emotional Development. This project aims to investigate multi-generational influences on child psychosocial development. It plans to take advantage of a not-to-be-repeated opportunity to follow offspring born to one of Australia’s oldest longitudinal studies of social and emotional development. The Australian Temperament Project has followed around 2000 parents and offspring across 30 years from birth in 1983. Third-generation babies have been fol ....Intergenerational Prediction of Social and Early Emotional Development. This project aims to investigate multi-generational influences on child psychosocial development. It plans to take advantage of a not-to-be-repeated opportunity to follow offspring born to one of Australia’s oldest longitudinal studies of social and emotional development. The Australian Temperament Project has followed around 2000 parents and offspring across 30 years from birth in 1983. Third-generation babies have been followed across the peak period of first births to females. This project plans to continue recruitment across the peak period of first births for males in 2016–18. This would create one of the most extensive and well-powered three-generation resources worldwide, yielding unique data on intergenerational pathways through mother and father lines. It expects to inform targeting of interventions and psychosocial resources to promote wellbeing within and across generations.Read moreRead less
Preconception predictors of early childhood social and emotional development: a 30-year longitudinal study of grandparents, parents and children. There is increasing recognition of the importance of preconception pathways in shaping the family environments that parents provide for their children. This project will advance understandings of preconception pathways to healthy early child development, by recruiting offspring born to a 30-year longitudinal study: The Australian Temperament Study.
Comprehensive characterisation of DNA demethylation pathways in vivo. This project aims to provide a better understanding of the roles that DNA methylation plays during embryonic development. DNA methylation is a major regulatory mark present in vertebrate genomes. It is well established that the genomic patterns of DNA methylation are being actively remodelled during vertebrate embryogenesis. Nevertheless, it remains unclear how these events impact gene regulation and embryonic development itse ....Comprehensive characterisation of DNA demethylation pathways in vivo. This project aims to provide a better understanding of the roles that DNA methylation plays during embryonic development. DNA methylation is a major regulatory mark present in vertebrate genomes. It is well established that the genomic patterns of DNA methylation are being actively remodelled during vertebrate embryogenesis. Nevertheless, it remains unclear how these events impact gene regulation and embryonic development itself. This project expects to unravel the functional contributions of DNA methylation to vertebrate embryogenesis by using latest cutting-edge genomics techniques. The project will be carried out on the highly tractable zebrafish model system which allows for easy genetic manipulation of the desired sequences. This project aims to provide a better understanding of embryonic development of vertebrates, including humans.Read moreRead less
Understanding the link between reading impairments and emotional problems. This Project aims to understand why children with reading impairments are at increased risk for emotional problems. By integrating the statistical power of large-scale longitudinal studies with the causal testing power of intervention case studies, it seeks to fast-track the development of a comprehensive evidence-based theory of the mechanisms linking reading impairments and emotional problems. The outcomes will pave the ....Understanding the link between reading impairments and emotional problems. This Project aims to understand why children with reading impairments are at increased risk for emotional problems. By integrating the statistical power of large-scale longitudinal studies with the causal testing power of intervention case studies, it seeks to fast-track the development of a comprehensive evidence-based theory of the mechanisms linking reading impairments and emotional problems. The outcomes will pave the way for future diagnosis and treatment of concomitant reading and emotional difficulties in children. These outcomes improve our capacity to reduce the incidence of two common problems that limit the life success of Australian children - poor literacy and poor emotional health.Read moreRead less
The neurocognitive basis of dual-task co-ordination impairment in Alzheimer’s: defective coordination mechanism or differences in speed of processing? This project explores the effects of age, depression and Alzheimer’s disease on the ability to carry out two tasks at once, to determine whether difficulty doing so is due to slowed mental processing, or to a deficit in a mechanism responsible for task coordination. The project will advance cognitive theory and may help with diagnosis of dementia.