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.
Osteoporosis is a common condition in which bone strength is reduced due to reduced amount and quality of bone. Reduced bone strength means an increased risk of fracture. Osteoporotic fractures occur in 1 in 2 women and 1 in 3 men in their lifetime, and the likelihood of suffering osteoporotic fracture increases with age. Most of the risk of developing osteoporosis is genetic, but few of the genes involved have been identified. Our goal is to identify those genes. We will complete recruitment an ....Osteoporosis is a common condition in which bone strength is reduced due to reduced amount and quality of bone. Reduced bone strength means an increased risk of fracture. Osteoporotic fractures occur in 1 in 2 women and 1 in 3 men in their lifetime, and the likelihood of suffering osteoporotic fracture increases with age. Most of the risk of developing osteoporosis is genetic, but few of the genes involved have been identified. Our goal is to identify those genes. We will complete recruitment and assessment of a cohort of 1500 postmenopausal women with either low or high bone mineral density from pre-existing population cohorts in Australia. A genomewide association study will then be performed on these cases. Associated genes in different datasets will then be investigated further in our cohort, and high-density SNP mapping performed to identify true associated variants. These studies should identify most genetic variants associated with BMD variation and low trauma fracture in the general community, allowing development of diagnostic-disease predictive genetic tests, and informing development of novel therapeutic agents for osteoporosis.Read moreRead less
Enterovirus 71 In The Asia-Pacific Region: Reverse Genetic Approaches To Virus Surveillance And Vaccine Development.
Funder
National Health and Medical Research Council
Funding Amount
$690,833.00
Summary
In this research the team will use advanced biotechnological techniques to study the distribution and virulence markers of an important emerging infectious disease, enterovirus 71 encephalitis, in the Asia-Pacific region. The knowledge and technical advances derived from this study will be shared with neighbouring countries in order to conduct sensitive surveillance for this infection throughout the region. The study's other major aim is to use cutting-edge biotechnological techniques to develop ....In this research the team will use advanced biotechnological techniques to study the distribution and virulence markers of an important emerging infectious disease, enterovirus 71 encephalitis, in the Asia-Pacific region. The knowledge and technical advances derived from this study will be shared with neighbouring countries in order to conduct sensitive surveillance for this infection throughout the region. The study's other major aim is to use cutting-edge biotechnological techniques to develop a genetically defined, live attenuated vaccine strain. Candidate vaccine strains will be tested for their effectiveness in both cell culture-based and animal models.Read moreRead less
Gene-environment Interaction In Healthy Brain Ageing And Age Related Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$2,162,805.00
Summary
Healthy ageing is characterised by low level of disability, high cognitive and functional capacity, and an active engagement in life. The most important ingredient of healthy ageing is a healthy brain, bereft of age-related diseases and dysfunction. Brain ageing and brain diseases are determined by multiple genetic factors that interact with environmental influences. The genes are multiple, the majority of which have a small influence. This study is an attempt to identify some of these genes and ....Healthy ageing is characterised by low level of disability, high cognitive and functional capacity, and an active engagement in life. The most important ingredient of healthy ageing is a healthy brain, bereft of age-related diseases and dysfunction. Brain ageing and brain diseases are determined by multiple genetic factors that interact with environmental influences. The genes are multiple, the majority of which have a small influence. This study is an attempt to identify some of these genes and investigate their interactions with environmental factors. It will use a unique resource, the NHMRC Australian Twin Registry (ATR) to identify elderly twins, and will also include the siblings of these twins so as to increase the ability to identify the important factors. The participants, who are listed on the ATR and recruited from NSW, Queensland and Victoria, will receive detailed neurological, psychiatric and cognitive assessments, and will undergo brain MRI scans. Their blood samples will be used to measure key chemicals that may affect brain ageing and to extract DNA for genetic tests. They will be followed-up every two years thereafter, and changes in their brain structure and cognitive functioning will be examined. Available statistical models will be used to examine gene-environment interactions and specific genes will be explored for their contribution to the additive genetic effects. This study will yield an important resource for national and international collaborations and has the potential to discover new genes.Read moreRead less
QTL Linkage Analysis For Complex Human Traits In Twin Families
Funder
National Health and Medical Research Council
Funding Amount
$1,000,000.00
Summary
This project will focus on finding genes for common human diseases. Now that the human genome has been sequenced, the race is on to find out what the estimated 38,000 human genes do and which ones are associated with which diseases. Scattered throughout the genome are small variations in DNA sequence, some of which increase the odds of disease while others are protective.
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
Identifying EHealth Literacy And Readability Issues For Palliative Care Consumers
Funder
National Health and Medical Research Council
Funding Amount
$29,375.00
Summary
Access and use of health information can affect a patient’s health experience and potentially their health outcomes. Increasingly health information is being provided and sought through the internet and online resources. Palliative care patients and their carers have specific information needs relating to the nature and progress of their disease, their symptoms and their current and pending quality of life. However, their ability to find and use information relies on many factors such as individ ....Access and use of health information can affect a patient’s health experience and potentially their health outcomes. Increasingly health information is being provided and sought through the internet and online resources. Palliative care patients and their carers have specific information needs relating to the nature and progress of their disease, their symptoms and their current and pending quality of life. However, their ability to find and use information relies on many factors such as individual skills and experiences and how information is presented and made available. eHealth literacy is a measure of the mix of skills required by consumers to successfully access and understand palliative care information. Readability is one aspect of eHealth literacy and readability scales can be used to identify how effective websites are in providing appropriate written information for palliative care consumers. This research will help assess eHealth literacy levels and hence potential intervention needs of palliative care patients and carers as well as determining whether the readability requirement of palliative care websites and information is too high.Read moreRead less
Genetic And Evironmenal Risk Factors For Melanoma: Translation Into Behavioural Change
Funder
National Health and Medical Research Council
Funding Amount
$250,900.00
Summary
GenoMEL, formerly known as the Melanoma Genetics Consortium, has focused on the identification of familial high penetrance melanoma genes. The joint programme of research has been very successful in the identification of susceptibility genes and developing joint data collection for gene-environment interaction studies. In order to continue its proactive role, GenoMEL wishes to develop a multidisciplinary European platform, directed towards: 1. developing shared resources and activities 2. identi ....GenoMEL, formerly known as the Melanoma Genetics Consortium, has focused on the identification of familial high penetrance melanoma genes. The joint programme of research has been very successful in the identification of susceptibility genes and developing joint data collection for gene-environment interaction studies. In order to continue its proactive role, GenoMEL wishes to develop a multidisciplinary European platform, directed towards: 1. developing shared resources and activities 2. identification of new susceptibility genes and understanding the role of these genes in tumours 3. investigation of genotype-phenotype interaction and gene-environment interaction for known susceptibility genes 4. investigation of attitudes to risk of melanoma in Europe, and translation of that risk perception into behavioural change 5. spreading excellence by creating a widely accessible web-based content management system (CMS) to address prevention, early detection, dealing with the diagnosis of melanoma and genetic counselling. Through GenoMEL's jointly executed research, groups will support the network's goal to maintain excellence in research, increase institutional integration and create an enduring structure of translational melanoma genetics research in Europe and other countries. European integration will enhance dialogue, disseminate expertise and resources, provide training and allow mobility of scientists within Europe. It is aimed to keep the network open and dynamic by adding new partners, especially in Eastern Europe where melanoma incidence rates may rise most precipitously in the near future, if the expected increase in wealth results in greater levels of sun exposure. There will be participation from four new European groups and others from Australia, the USA and Israel to capitalize on latitudinal (sun exposure) differences between these groups.Read moreRead less
An Investigation Of Care Planning Decisions In Advanced Pulmonary And Cardiac Illness In The Bayside Health Care Region
Funder
National Health and Medical Research Council
Funding Amount
$47,726.00
Summary
There has been little Australian research to develop interventions that facilitate end of life decision making. This project will provide a framework for understanding the issues in the planning of end of life care for people with chronic and life limiting illness and the relationship of this planning to organizational policy. The care decisions in hospital records of people with advanced lung and heart disease will be reviewed and people with those diseases interviewed about the issues they exp ....There has been little Australian research to develop interventions that facilitate end of life decision making. This project will provide a framework for understanding the issues in the planning of end of life care for people with chronic and life limiting illness and the relationship of this planning to organizational policy. The care decisions in hospital records of people with advanced lung and heart disease will be reviewed and people with those diseases interviewed about the issues they experience in planning their future care. Professionals from a range of health organisations will be interviewed about their experiences of care planning for people with life limiting lung and heart disease. As a pilot, this project will be used to contribute to the development of a model for a coordinated multidisciplinary process that brings together the health care services in a region and contributes to the systematic, ongoing development of infrastructure to improve end of life care.Read moreRead less