Mechanisms Underlying Generation Of Febrile Seizures In Mouse Models Of Human Familial Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$304,559.00
Summary
Febrile Seizures (FS) affect 3% of children aged 0.5 - 6 yrs and have been proposed as an indicator of severe forms of adult generalized epilepsy. Mechanisms underlying FS generation are unknown although studies of Australian families suffering from epilepsy have linked 2 genes to FS. We have generated mice expressing these 2 genes. Aims and Outcomes: to investigate events triggering FS which will provide important insights into why FS occurs in children. (NB: CIA 2 yr career interruption)
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0775660
Funder
Australian Research Council
Funding Amount
$500,000.00
Summary
A National Biomedical Electron Paramagnetic Resonance and Molecular Imaging Centre. Multifrequency continuous wave and pulsed electron paramagnetic resonance spectroscopy and molecular imaging instrumentation will provide forefront technologies in identifying, characterising, quantifying, visualising and manipulating fundamental chemical and biologically relevant processes involving free radicals, metalloproteins and metal ions. This technology is crucial in validating these functional processes ....A National Biomedical Electron Paramagnetic Resonance and Molecular Imaging Centre. Multifrequency continuous wave and pulsed electron paramagnetic resonance spectroscopy and molecular imaging instrumentation will provide forefront technologies in identifying, characterising, quantifying, visualising and manipulating fundamental chemical and biologically relevant processes involving free radicals, metalloproteins and metal ions. This technology is crucial in validating these functional processes at the cellular and tissue level and for providing invaluable and unique biomedical information under physiological conditions. This synergistic and highly integrative approach will make available new techniques for identifying major disease mechanisms such as cardiovascular disease with a potential to improve and maintain health. Read moreRead less
Verification of a theoretical model of the dynamical genesis of brain electrical activity. The physiological basis for the rhythmic scalp electrical activity known as the alpha rhythm has remained elusive despite being first recorded over eighty years ago. However, one of the applicants (DTJL) has developed a novel theory of the electroencephalogram (EEG) that theoretically articulates the necessary physiological conditions required for the genesis of this activity that is subject to rigorous e ....Verification of a theoretical model of the dynamical genesis of brain electrical activity. The physiological basis for the rhythmic scalp electrical activity known as the alpha rhythm has remained elusive despite being first recorded over eighty years ago. However, one of the applicants (DTJL) has developed a novel theory of the electroencephalogram (EEG) that theoretically articulates the necessary physiological conditions required for the genesis of this activity that is subject to rigorous experimental test. Empirical verification of this theory will pave the way to elucidating the functional importance of large scale brain electrical activity in neural information processing as well as enabling the rational use of the EEG for drug design and diagnosis.Read moreRead less
Crosstalk Between The Repressive Histone Methyltransferases PRC2 And G9A: Structure-function Investigation To Open New Therapeutic Opportunities
Funder
National Health and Medical Research Council
Funding Amount
$595,205.00
Summary
The gene expression programs need to be precisely regulated and the misregulation of these programs can cause a broad range of human diseases. My research will focus on two protein complexes, which heavily contribute to the regulation of gene expression. My study will open a new path for developing new therapeutic strategies.
Neourobiology Of Human Epilepsy: Genes, Cellular Mechanisms,network And Whole Brain
Funder
National Health and Medical Research Council
Funding Amount
$17,652,824.00
Summary
The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. They will continue to identify genes underlying epilepsy and study how genetic variations result in development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.
Biomolecular activity modulated by interaction with nanostructures. Nanotechnological methods are able to reliably fabricate artificial nanostructures with dimensions similar to those of large biomolecules (a few to tens of nanometers). This study focuses on the interaction of artificial nanostructures with biomolecules such as proteins and DNA, and will enable scientists to better understand biomolecular recognition and binding events, which are central to all biological processes. The underst ....Biomolecular activity modulated by interaction with nanostructures. Nanotechnological methods are able to reliably fabricate artificial nanostructures with dimensions similar to those of large biomolecules (a few to tens of nanometers). This study focuses on the interaction of artificial nanostructures with biomolecules such as proteins and DNA, and will enable scientists to better understand biomolecular recognition and binding events, which are central to all biological processes. The understanding gained can then be used to design biomimetic surfaces for use in health monitoring and medical diagnostic devices with improved sensitivity, robustness and portability, thereby providing significant benefits to the health sector.Read moreRead less
Physiology of oxygen transport in the mammalian kidney. This project aims to improve understanding of oxygen regulation in renal tissue and knowledge of the physiology of the kidney. The mammalian kidney receives more oxygen than it uses or needs, and yet renal tissue is commonly found to be hypoxic. This project proposes that oxygen transport to the renal tissue is limited by blood vessel surface area. The project expects to generate anatomical data currently missing from the renal physiology c ....Physiology of oxygen transport in the mammalian kidney. This project aims to improve understanding of oxygen regulation in renal tissue and knowledge of the physiology of the kidney. The mammalian kidney receives more oxygen than it uses or needs, and yet renal tissue is commonly found to be hypoxic. This project proposes that oxygen transport to the renal tissue is limited by blood vessel surface area. The project expects to generate anatomical data currently missing from the renal physiology community, and potentially change the accepted story of oxygen homeostasis in the kidney. This will provide significant benefits, such as the provision of the foundational physiological science behind a determinant of kidney health and its flow-on impact to quality of life.Read moreRead less
The Role of C-kit and Selected TGF beta Family Members in Recruitment. The recruitment of primordial follicles into the growth phase is central to female reproductive function, however the control of this process to date, has been poorly understood due to inadequate technologies. Our team has recently developed novel recruitment models and a new and innovative method of isolating primordial follicles which will enable us to identify the role of c-kit and selected TGF beta family members in recru ....The Role of C-kit and Selected TGF beta Family Members in Recruitment. The recruitment of primordial follicles into the growth phase is central to female reproductive function, however the control of this process to date, has been poorly understood due to inadequate technologies. Our team has recently developed novel recruitment models and a new and innovative method of isolating primordial follicles which will enable us to identify the role of c-kit and selected TGF beta family members in recruitment. This work will provide cornerstone scientific knowledge about the control of female reproduction and provide the impetus for the development of more effective contraception and superovulation strategies in mammals.Read moreRead less
Determining Fundamental Mechanisms Compromised In Kir-linked Disease States
Funder
National Health and Medical Research Council
Funding Amount
$600,040.00
Summary
The human nervous system and organs are reliant on precisely controlled transmission of electrical currents through sodium and potassium channels. Their core functions are compromised when currents fail to switch on and off normally. Faulty potassium channels are implicated in diabetes, epilepsy and heart failure. This project re-examines the mechanisms controlling potassium channels, with a view to scientific and therapeutic discrimination between the different classes present in human cells.
Modelling TRPV4 Skeletal Disorders Using Human IPSCs
Funder
National Health and Medical Research Council
Funding Amount
$1,171,187.00
Summary
Inherited skeletal disorders are a significant disease burden. Many gene mutations have been defined but we only have limited understanding about how they cause the disease. We will use patient skin cells and new in vitro re-programing technology to induce them to form cartilage cells to produce “disease in a dish” models of human skeletal disorders. These models will allow us to answer questions about how specific mutations cause disease and identify potential therapies