Genome-wide Combined Linkage-association Scan Of Multiply Phenotyped Twin Sibships
Funder
National Health and Medical Research Council
Funding Amount
$1,920,000.00
Summary
We have a large ongoing study of adolescent twins, their siblings and parents who are multiply phenotyped in many domains including melanoma risk factors, serum biochemistry, and cognition. We used our first Medical Genomics grant to obtain a 5cM linkage scan for>500 families and have identified linkage peaks for many different phenotypes. To fine map these it will be most efficient to carry out a genome-wide association scan. We request funds to type a 500k SNP chip on 1000 individuals.
Confirming The Burden Of Disease Associated With Dementia Using New Empirically Driven Australian Based Disability Rati
Funder
National Health and Medical Research Council
Funding Amount
$138,084.00
Summary
The amount of burden the population experiences as a result of individual diseases influences health policy. The Australian Burden of Disease project quantifies the relative burden associated with each disease. New estimates are to be released this year will outline the magnitude of burden associated with dementia now and estimate that for the year 2023. Although the projections use the best data available, three improvements to the methodology would improve the accuracy of the dementia burden e ....The amount of burden the population experiences as a result of individual diseases influences health policy. The Australian Burden of Disease project quantifies the relative burden associated with each disease. New estimates are to be released this year will outline the magnitude of burden associated with dementia now and estimate that for the year 2023. Although the projections use the best data available, three improvements to the methodology would improve the accuracy of the dementia burden estimates. First, the dementia calculations currently use a “disability weight” metric derived from a Dutch study. This is problematic in that the weights do not reflect an Australian experience of dementia, nor do they reflect the preferences of people closely affected by the disease (e.g. carers). Second, the dementia estimates do not include cases of mild cognitive impairment (considered a precursor state of dementia). Hence the dementia estimates may not estimate the full impact of dementia in Australia. Finally, there is no evidence that the method used by the Burden of Disease study to account for the impact of disease comorbidity adequately deals with the comorbidity associated with dementia. Consequently, there is need to develop a new and comprehensive set of disability weights for dementia that are Australian-based, include all stages of dementia severity and account for comorbidity. The proposed project aims to develop a new set of empirically derived Australian-based disability weights for dementia. The project will entail three studies. The first study will generate empirically based case vignettes that describe a range of dementia case scenarios. These descriptions will then be used in rating exercises (Study 2) to develop new disability weights. The second study involves Australian health practitioners, carers and lay persons reading case vignettes and completing health valuation rating exercises to generate new disability weights for dementia. The third study uses the new disability weights to re-calculate the burden of disease estimates for dementia. The new estimates will be compared to those reported by the 2007 Australian Burden of Disease project. In knowing the accuracy of the estimates, policy makers can use the burden data for dementia with confidence when engaging in service planning for the future.Read moreRead less
The Australia Medical Bioinformatics Resource (AMBeR)
Funder
National Health and Medical Research Council
Funding Amount
$2,185,000.00
Summary
This proposal is to build a new national medical bioinformatics resource - the Australian Medical Bioinformatics Resource (AMBeR) - and to enhance the national capacity in this important area. We aim to bring together Australia's unique resources for genetic epidemiology and genomics with high level expertise in bioinformatics and statistical science, conduct advanced methodological research, develop new research capacity and competitiveness in cutting-edge techniques, bring them to bear on impo ....This proposal is to build a new national medical bioinformatics resource - the Australian Medical Bioinformatics Resource (AMBeR) - and to enhance the national capacity in this important area. We aim to bring together Australia's unique resources for genetic epidemiology and genomics with high level expertise in bioinformatics and statistical science, conduct advanced methodological research, develop new research capacity and competitiveness in cutting-edge techniques, bring them to bear on important medical research problems, train young Australians in bioinformatics and advanced biostatistics, and transfer this expertise to the medical research community.Read moreRead less
Statistical Methods And Algorithms For Analysis Of High-throughput Genetics And Genomics Platforms
Funder
National Health and Medical Research Council
Funding Amount
$1,557,500.00
Summary
Through rapid advances in high-throughput -omics technologies, the number of phenotypes and the number of genotypes in gene mapping studies are or will be orders of magnitudes larger than in previous studies. Current algorithms and analysis methods have not kept up with the speed of data collection, nor has the training of qualified researchers. We will develop quantitative trait loci (fine) mapping analysis methods and bioinformatics algorithms and train (post)graduates in these research areas.