Identifying Novel Gene Mutations For Molecular Diagnosis Of Familial Hemiplegic Migraine
Funder
National Health and Medical Research Council
Funding Amount
$623,460.00
Summary
This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.
Identifying Mitochondrial Genome Variants Associated With Familial Migraine Susceptibility
Funder
National Health and Medical Research Council
Funding Amount
$443,273.00
Summary
New therapeutic targets for migraine are desperately needed. Although studies have identified some migraine genes there remains considerable underlying genetic variation to be characterised. This study aims to identify functional variants in the mitochondrial genome that contribute to migraine susceptibility, utilising the isolated Norfolk Island population. Outcomes will determine the significance of the variants identified, potentially leading to new diagnostics.
CareTrack Aged: Appropriate Care Delivered To Australians Living In Residential Aged Care
Funder
National Health and Medical Research Council
Funding Amount
$1,157,722.00
Summary
Given Australia’s rapidly ageing population, keeping up with future demands and maintaining quality of care in residential aged care facilities (RACF) is vital. This study will assess whether care delivered is consistent with the evidence in 15 conditions that are frequently managed in RACFs. These will include delirium, dementia, depression, pain management and medication management. We will also assess the quality of life of residents in RACFs.
Developmental Schizotypy In The General Population: Early Risk Factors And Predictive Utility.
Funder
National Health and Medical Research Council
Funding Amount
$830,952.00
Summary
This study will determine early childhood risk factors for psychosis-proneness in children aged 11 years, and emerging signs and symptoms of mental health disorders of these children, using population data from the NSW Child Development Study. Determining risk for psychosis as early as possible in the life course will enable the provision of preventative interventions to children at critical points in development.
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.
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.
Novel Epidemiological Methods To Infer The Causal Effects Of Risk Factors On Neuropsychiatric And Cardiovascular Disorders
Funder
National Health and Medical Research Council
Funding Amount
$182,003.00
Summary
Epidemiological studies, which associate risk factors and disease, are central in informing public health policy. Because causality is difficult to ascertain from these associations, public health interventions based on these findings are at some risk of failure. We propose to develop, extend and apply an innovative epidemiological approach, Mendelian randomization (MR) to resolve the causal relationship between risk factors and neuropsychiatric and cardiovascular disorders.
Translation Of Glaucoma Blindness Genes To Improve Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$856,795.00
Summary
Glaucoma is a common cause of irreversible blindness. It is currently difficult to predict which patients with the earliest signs of glaucoma will develop blinding stages of the disease. This study will investigate how genes and eye measurements can be used to predict the risk of developing severe glaucoma in people with early signs of disease. This will ensure that high risk individuals can access treatment early, while those at low risk can be spared unnecessary treatment and seen less often.