Understanding Cortical Circuitry Underlying Sensory Integration And The Consequence Of Its Developmental Disruption
Funder
National Health and Medical Research Council
Funding Amount
$527,395.00
Summary
The mammalian neocortex is organised into six layers with a systematic pattern of wiring that relies on normal development and balanced activity of neurons. This project combines developmental, electrophysiological, optogenetic behavioural, and computational methods to establish how the properties of the precise structure of cortical circuits impact their function and how disruptions in the balanced activity during development affect circuit formation and function in the mature brain.
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.
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.
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.
Evaluation Of Chlamydia Trachomatis Treatment Failure: A Cohort Study Of Women
Funder
National Health and Medical Research Council
Funding Amount
$761,844.00
Summary
Chlamydia is a very common sexually transmissible infection in Australia that can lead to infertility in women. About 4% of young adults have it. There is increasing concern by experts about the efficacy of the recommended chlamydia treatment. This is further supported by very high repeat infection rates following a previous positive chlamydia diagnosis. This study will measure whether chlamydia treatment failure is a problem and if so, this will change treatment guidelines worldwide.
The Influence Of Physical Activity And Sedentary Behaviour On Physical Function
Funder
National Health and Medical Research Council
Funding Amount
$1,269,867.00
Summary
Declines in physical function (e.g. stair climbing, bending/kneeling) can lead to a loss of personal independence. Physical activity can prevent or delay these declines, whereas a sedentary lifestyle can hasten them. This project examines the contribution of physical activity and sedentary behaviour to declines in physical function among baby boomers. Results will inform policy aimed at maintaining people’s independence and minimizing health care costs associated with an ageing population.
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.