Novel Fragile X Syndrome Prevalence Estimates In 100,000 Australian Newborns, Prognostic And Health-economic Outcomes: A Retrospective Newborn Screening Study
Funder
National Health and Medical Research Council
Funding Amount
$769,866.00
Summary
Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.
Identifying Key Players In The Spread Of Antimicrobial Resistance
Funder
National Health and Medical Research Council
Funding Amount
$817,448.00
Summary
Antibiotic drugs are essential to treat bacterial infections. However some bacteria have genes that allow them to resist certain drugs, which can be transferred among bacteria to create 'superbugs' that can resist nearly all the drugs we have. This project investigates the transfer of drug resistance genes between Gram negative bacteria (common agents of food poisoning, hospital infection, UTI, etc) and aims to identify the bacteria and genes most important in the spread of superbugs in Australi ....Antibiotic drugs are essential to treat bacterial infections. However some bacteria have genes that allow them to resist certain drugs, which can be transferred among bacteria to create 'superbugs' that can resist nearly all the drugs we have. This project investigates the transfer of drug resistance genes between Gram negative bacteria (common agents of food poisoning, hospital infection, UTI, etc) and aims to identify the bacteria and genes most important in the spread of superbugs in Australia.Read moreRead less
ASPREE is the largest clinical trial ever conducted in Australia and will determine whether daily low dose aspirin prevents disease in healthy older people. The study was well-funded initially but will require additional support to complete the vital final stage of data collection and analysis. This will enable the study to answer important questions about the benefits and risks of aspirin in this age group and its effect on disability free survival.
Detection Of Somatic Mutations In Sporadic Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$1,256,166.00
Summary
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
Workplace Interventions To Reduce The Cost Of Neck Problems In Office Personnel
Funder
National Health and Medical Research Council
Funding Amount
$660,834.00
Summary
Neck pain in office workers is a major burden in industry in terms of lost productivity and personal suffering. This research will evaluate a novel intervention for the prevention and management of neck pain in computer users. The impact and value of neck specific exercises and best practice office ergonomics will be evaluated from the employers (productivity loss) and workers perspective (severity of neck pain). The findings will directly benefit future management of this significant health iss ....Neck pain in office workers is a major burden in industry in terms of lost productivity and personal suffering. This research will evaluate a novel intervention for the prevention and management of neck pain in computer users. The impact and value of neck specific exercises and best practice office ergonomics will be evaluated from the employers (productivity loss) and workers perspective (severity of neck pain). The findings will directly benefit future management of this significant health issue.Read moreRead less
Integrating Immunity And Genetics In Follicular Lymphoma To Establish A Prognostic Score Fit For The Modern Era
Funder
National Health and Medical Research Council
Funding Amount
$1,377,174.00
Summary
Follicular lymphoma (FL) is divided into early and advanced stages. Early stage FL is frequently cured, but there is no way to identify who will be cured and who won't. By contrast advanced stage FL is incurable. Our unique access to well-annotated clinical trial and population based cohorts allows us to perform a detailed biological comparison of early and advanced FL, to gain a deeper understanding of the impediments to eradicating the disease, and to predict outcome to conventional therapy.
Strabismus is the pathological misalignment of the eyes associated with loss of binocular vision and is one of the most common human ophthalmological disorders. Patients with comitant strabismus have full eye movements, whereas patients with incomitant strabismus have limited eye movements, which causes the angle of strabismus to vary with gaze direction. This project aims to define genetic contributors to comitant congenital strabismus.
Determining The Impact Of Inherited Epigenetic Information On Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$511,691.00
Summary
Recent observations show that the environment in which you live can alter disease susceptibility in your children, without altering the sequence of your genes. This is due to epigenetic mechanisms which control the way the DNA is interpreted. In this study we will study the potential for epigenetic mechanisms to affect sperm production and impact characteristics and disease in the next generation.
High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
Circulating Tumour DNA To Monitor Treatment Response And Resistance In Chronic Lymphocytic Leukaemia
Funder
National Health and Medical Research Council
Funding Amount
$876,950.00
Summary
Many cancers shed small amounts of DNA (ctDNA) into the patient’s bloodstream and recent advances in genomic technologies now allow levels of ctDNA to be accurately measured in the blood. Changes in ctDNA levels have potential to be used as specific markers of disease progression and/or response to cancer therapy. This project will evaluate if ctDNA can be used to monitor treatment responses and individualise treatment decisions in patients with chronic lymphocytic leukaemia.