Identifying The Critical Pathways Which Regulate Vertebrate Craniofacial Development
Funder
National Health and Medical Research Council
Funding Amount
$552,131.00
Summary
Understanding the genes which underlie human birth defects is of immense clinical importance. Our laboratory is a world-leader investigating a gene responsible for facial skeleton development, Grhl2. With our wide range of models, we will discover how Grhl2 works to ensure the face and skull develop properly during birth.
Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$572,710.00
Summary
Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c ....Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.Read moreRead less
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.
ARC Centre of Excellence in Plants for Space. ARC Centre of Excellence in Plants for Space. This Centre aims to create on-demand, zero-waste, high-efficiency plants and plant products to address grand challenges in sustainability for Space and on Earth. Significant advances in plant, food, and sensory science; process and systems engineering; law and policy; and psychology are expected to deliver transformative solutions for Space habitation – and create enhanced plant-derived food and bioresour ....ARC Centre of Excellence in Plants for Space. ARC Centre of Excellence in Plants for Space. This Centre aims to create on-demand, zero-waste, high-efficiency plants and plant products to address grand challenges in sustainability for Space and on Earth. Significant advances in plant, food, and sensory science; process and systems engineering; law and policy; and psychology are expected to deliver transformative solutions for Space habitation – and create enhanced plant-derived food and bioresources to capitalise upon emergent and rapidly expanding domestic and global markets. Anticipated outcomes include industry uptake of innovative plant forms, foods, technologies, and commodities; and an ambitious education and international co-ordination agenda to position Australia as a global leader in research supporting Space habitation.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
Studying Molecular Dynamics with Electron and Laser Interactions. We plan to use state-of-the-art experimental techniques and methodologies to probe the dynamics of molecular processes stimulated by either laser or electron interactions. These processes are fundamental to our understanding of both natural phenomena and many devices used in the technology of today and of the future. As a result of this study our insight into the mechanisms underpining these phenomena and devices will be enhanced.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0219618
Funder
Australian Research Council
Funding Amount
$215,000.00
Summary
National Facility for Advanced Molecular Orbital Imaging. We will develop a new two-dimensional multiparameter high-resolution electron momentum spectroscopy (EMS) spectrometer that incorporates multiparameter data acquisition and reduction techniques and combine it with a new time of flight (TOF) ion-analyser in order to perform the first high-resolution EMS with oriented target experiments.
In conjunction with theoretical calculations, the results from these experiments will provide the most ....National Facility for Advanced Molecular Orbital Imaging. We will develop a new two-dimensional multiparameter high-resolution electron momentum spectroscopy (EMS) spectrometer that incorporates multiparameter data acquisition and reduction techniques and combine it with a new time of flight (TOF) ion-analyser in order to perform the first high-resolution EMS with oriented target experiments.
In conjunction with theoretical calculations, the results from these experiments will provide the most advanced evaluation for molecular orbital imaging quality for the chemically significant targets we wish to study. This in turn will lead to the determination of more accurate physico-chemical information, including structure and bonding information, for these targets.Read moreRead less
Cross sections for electron scattering from molecules and radicals of technological and environmental relevance. We will use two state of the art crossed beam spectrometers to measure absolute differential and integral cross sections for low energy electron scattering from molecules and their molecular fragments (radicals). The species to be considered are those of significant industrial (e.g. C2F4, C4F8 and CF2) and environmental (e.g. CO2 and H2O) interest, with the cross sections we will mea ....Cross sections for electron scattering from molecules and radicals of technological and environmental relevance. We will use two state of the art crossed beam spectrometers to measure absolute differential and integral cross sections for low energy electron scattering from molecules and their molecular fragments (radicals). The species to be considered are those of significant industrial (e.g. C2F4, C4F8 and CF2) and environmental (e.g. CO2 and H2O) interest, with the cross sections we will measure being crucial to our modelling both the processes involved in plasma enhanced chemical vapour desposition of semiconductor devices and the spectral emission characteristics of planetary atmospheres. The modelling will be conducted self-consistently with our enhanced statistical equilibrium simulation code, which is unique to Australia.Read moreRead less
Collision data for lighting industry and plasma modeling. The project's primary aim is to progress the design of more efficient
and environmentally friendly light sources. Given the number of light
sources in use worldwide even a small improvement in the efficiency
could lead to enormous benefits to society via reduction of energy
consumption. Design of new mercury-free light sources will eliminate a
major neuro-toxin pollution source. Collaboration with research groups
at the OSRAM-SYLVA ....Collision data for lighting industry and plasma modeling. The project's primary aim is to progress the design of more efficient
and environmentally friendly light sources. Given the number of light
sources in use worldwide even a small improvement in the efficiency
could lead to enormous benefits to society via reduction of energy
consumption. Design of new mercury-free light sources will eliminate a
major neuro-toxin pollution source. Collaboration with research groups
at the OSRAM-SYLVANIA Corporation (USA) and Sheffield University (UK)
will herald the beginning of industrial application for our successful
atomic collisions research program. The previous substantial ARC
investment towards this fundamental science program has now enabled
practical application.Read moreRead less
Safer gene editing tools for Australian livestock and biotech industries. Editing the genome of an organism in an efficient and safe fashion is critical for the livestock and biotechnology industries. While CRISPR-Cas9 has become the method of choice for genome editing, it is known to introduce unwanted "on-target" and "off-target" mutations, limiting its utility. To address this the CI team created a novel genome editing platform technology termed Crackling-CAST that is almost 100% accurate, w ....Safer gene editing tools for Australian livestock and biotech industries. Editing the genome of an organism in an efficient and safe fashion is critical for the livestock and biotechnology industries. While CRISPR-Cas9 has become the method of choice for genome editing, it is known to introduce unwanted "on-target" and "off-target" mutations, limiting its utility. To address this the CI team created a novel genome editing platform technology termed Crackling-CAST that is almost 100% accurate, while retaining the efficiency of the classical Cas9 system. This project will exemplify the capabilities of the novel gene targeting platform in cell types used by the biotechnology and livestock sectors, ensuring its global uptake by these industries and delivering significant economic benefits for Australia. Read moreRead less