Pathogenic Repeat Expansions In Ataxia: Advancing Gene Discovery And Genetic Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.
Comparative Effectiveness Of Breast Tomosynthesis And Mammography In Real-world Population Screening: Evidence To Underpin And Improve Breast Cancer Screening
Funder
National Health and Medical Research Council
Funding Amount
$1,851,430.00
Summary
This research addresses key evidence gaps in breast cancer screening by investigating tomosynthesis (3D mammography) versus standard 2D mammography screening to establish the effectiveness of tomosynthesis in Australia and internationally, including impact on cancers not detected at screening that progress clinically. Large-scale studies will be done in real world screening services including a prospective comparative study planned collaboratively with BreastScreen to guide screening policy.
Improving diagnostic accuracy and treatment options for equine PPID. Equine Pituitary Pars Intermedia Dysfunction (PPID) is a common, chronic and potentially life-threatening disease of older horses and ponies. Although a treatment is available, the disease is poorly understood and there are some concerns that the current diagnostic technology is not delivering accurate results. Thus, this project aims to develop a more accurate diagnostic test for PPID, while exploring the relationship between ....Improving diagnostic accuracy and treatment options for equine PPID. Equine Pituitary Pars Intermedia Dysfunction (PPID) is a common, chronic and potentially life-threatening disease of older horses and ponies. Although a treatment is available, the disease is poorly understood and there are some concerns that the current diagnostic technology is not delivering accurate results. Thus, this project aims to develop a more accurate diagnostic test for PPID, while exploring the relationship between PPID and metabolic syndrome, to generate new insights into the cause and consequences of both diseases. As an added benefit, the project will assist horseracing laboratories to improve their detection methods for peptide doping in younger competition horses.
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Artificial intelligence algorithms to predict risk of injury in racehorses. This project will address the urgent need for predicting and preventing catastrophic and career limiting limb injuries and cardiac arrhythmias in racehorses due to over (or under) training. Using data from GPS and movement sensors integrated into saddlecloths, artificial intelligence algorithms will convert cumulative data on speed, gait, and stride characteristics during training, along with injury data, into a risk mat ....Artificial intelligence algorithms to predict risk of injury in racehorses. This project will address the urgent need for predicting and preventing catastrophic and career limiting limb injuries and cardiac arrhythmias in racehorses due to over (or under) training. Using data from GPS and movement sensors integrated into saddlecloths, artificial intelligence algorithms will convert cumulative data on speed, gait, and stride characteristics during training, along with injury data, into a risk matrix. Recorded heart rate and ECG data will also be analysed using artificial intelligence to detect early evidence of the development of cardiac arrhythmias. The system will improve racehorse welfare, providing a simple interface to warn trainers when risk of injury becomes high, in order to prevent catastrophic breakdown.Read moreRead less
Reading the sequence of a single molecule of DNA . This project seeks to develop technology capable of accurately reading the sequence of a single DNA molecule for the first time. This is possible by combining state-of-the-art methods in DNA self-assembly, single-molecule fluorescence microscopy and bioelectronics, to overcome fundamental limits in current technologies.
The outcome of accurate DNA sequencing at single molecule resolution, promises ground-breaking biological insight from a more ....Reading the sequence of a single molecule of DNA . This project seeks to develop technology capable of accurately reading the sequence of a single DNA molecule for the first time. This is possible by combining state-of-the-art methods in DNA self-assembly, single-molecule fluorescence microscopy and bioelectronics, to overcome fundamental limits in current technologies.
The outcome of accurate DNA sequencing at single molecule resolution, promises ground-breaking biological insight from a more fine-grained view of the genetic world, game-changing technologies such as point-of-care genomics and in turn a substantial impact on the rapidly growing multi-billion-dollar DNA sequencing market. Read moreRead less
Ultrafast tracking of physiological processes in the human eye. Recent developments in high-resolution imaging allow individual cells in the living eye to be studied at very high speeds. This project aims to explore a new class of scientific observations of rapid phenomena including: the capture and conversion of light energy to electrical energy, the spread of pressure waves through delicate networks of blood vessels, and fast eye movements used to navigate the visual scene. This project expect ....Ultrafast tracking of physiological processes in the human eye. Recent developments in high-resolution imaging allow individual cells in the living eye to be studied at very high speeds. This project aims to explore a new class of scientific observations of rapid phenomena including: the capture and conversion of light energy to electrical energy, the spread of pressure waves through delicate networks of blood vessels, and fast eye movements used to navigate the visual scene. This project expects to generate new knowledge about these processes using state of the art technology, to reveal more about how the eye and visual system work. Our novel measures of physiological function will offer significant future benefit in the early diagnosis and treatment of disorders occurring at the cellular level.Read moreRead less
Australian Laureate Fellowships - Grant ID: FL230100023
Funder
Australian Research Council
Funding Amount
$3,362,355.00
Summary
Highly efficient microscale liquid handling and bio interfacing. The aim is to establish the exciting new field of micro elastofluidics, enabling the development of a highly competitive, sovereign capability in Australia, utilising flexibility and stretchability for efficient and precise handling of tiny volumes of liquid. The program will fill a critical gap in fundamental knowledge in fluid-structure interactions, leading to the development of wearable and implantable devices. The expected out ....Highly efficient microscale liquid handling and bio interfacing. The aim is to establish the exciting new field of micro elastofluidics, enabling the development of a highly competitive, sovereign capability in Australia, utilising flexibility and stretchability for efficient and precise handling of tiny volumes of liquid. The program will fill a critical gap in fundamental knowledge in fluid-structure interactions, leading to the development of wearable and implantable devices. The expected outcomes include innovative platform technologies for sample storage, handling and unique device-human interfaces with broad applications in health and defence. Expected benefits include enhanced capabilities in medical diagnostics, defence force protection and Australia’s sovereign high-tech manufacturing.Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE180100894
Funder
Australian Research Council
Funding Amount
$365,058.00
Summary
Molecular mechanisms of equine fertility and early recognition of pregnancy. This project aims to identify biomarkers of stallion fertility and early pregnancy in thoroughbred and Standardbred horses using biochemistry, proteomics and ribonucleic acid analyses. Responding to industry calls for improved methods of detecting and managing infertility in both stallions and mares, this project will connect Australian horse breeders and international clinical experts with the world renowned reproducti ....Molecular mechanisms of equine fertility and early recognition of pregnancy. This project aims to identify biomarkers of stallion fertility and early pregnancy in thoroughbred and Standardbred horses using biochemistry, proteomics and ribonucleic acid analyses. Responding to industry calls for improved methods of detecting and managing infertility in both stallions and mares, this project will connect Australian horse breeders and international clinical experts with the world renowned reproductive Priority Research Centre with the intended outcome of novel reproductive technologies and diagnostic tests. This should both secure international competitiveness and significantly enhance profitability and employment in this culturally significant industry.Read moreRead less
New vaccines and diagnostics to control viral disease in farmed crocodiles. Infection of farmed crocodiles with West Nile virus (WNV) causes lesions in the skin that render the hides unsuitable for high quality leather products. This results in >$20 million lost revenue to the Australian crocodile industry annually. We have developed a novel technology to generate safe and effective vaccines and diagnostic tests for WNV in animals. We aim to 1) conduct vaccine trials in farmed crocodiles to dete ....New vaccines and diagnostics to control viral disease in farmed crocodiles. Infection of farmed crocodiles with West Nile virus (WNV) causes lesions in the skin that render the hides unsuitable for high quality leather products. This results in >$20 million lost revenue to the Australian crocodile industry annually. We have developed a novel technology to generate safe and effective vaccines and diagnostic tests for WNV in animals. We aim to 1) conduct vaccine trials in farmed crocodiles to determine the optimum dose formulation and immunisation regime to provide long-lived protection against WNV disease; 2) validate pen-side tests to rapidly diagnose WNV infection in crocodiles on farms; and 3) transfer the technology to a manufacturing facility to ensure a commercial supply of the vaccines and diagnostic tests. Read moreRead less
Safeguarding Australia against vector-borne disease bio-incursions. Traditional diagnostic tests limited by their accuracy and ability to detect more than a few pathogens at one time, presents a major hurdle to protecting Australia's companion animals from a plethora of exotic and emerging vector-borne diseases (VBD). Many of these diseases also pose a major risk to public health. This project aims to develop, validate and verify a highly accurate, cost-effective, portable metabarcoding diagnost ....Safeguarding Australia against vector-borne disease bio-incursions. Traditional diagnostic tests limited by their accuracy and ability to detect more than a few pathogens at one time, presents a major hurdle to protecting Australia's companion animals from a plethora of exotic and emerging vector-borne diseases (VBD). Many of these diseases also pose a major risk to public health. This project aims to develop, validate and verify a highly accurate, cost-effective, portable metabarcoding diagnostic test capable of detecting known, emerging and novel parasitic, bacterial and viral VBD pathogens simultaneously, from clinical samples. The assay will represent a potential paradigm shift in the way VBD are tested, for the purpose of safeguarding Australia against VBD bio-incursions.Read moreRead less