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.
Valuing News: Aligning Individual, Institutional and Societal Perspectives. This project aims to identify the links between the preparedness of individuals to pay for news, the value of news brands and organisational cultures of news publishers, and the social value of news in promoting a democratic public sphere. Its significance arises with the ongoing crisis of news media business models, which is raising new questions about the future of journalism, and the changing role of governments worl ....Valuing News: Aligning Individual, Institutional and Societal Perspectives. This project aims to identify the links between the preparedness of individuals to pay for news, the value of news brands and organisational cultures of news publishers, and the social value of news in promoting a democratic public sphere. Its significance arises with the ongoing crisis of news media business models, which is raising new questions about the future of journalism, and the changing role of governments worldwide in financing news production. Its expected outcomes include advancing debates about how to support public interest journalism, and the value of news as both a commodity and a public good. It will be of benefit to industry, policymakers and the community in addressing the prospects for Australian journalism. Read moreRead less
Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less