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.
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
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
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
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
Determining Critical Points In The Potential Palliative Care Pathway In The Last Year Of Life
Funder
National Health and Medical Research Council
Funding Amount
$356,461.00
Summary
People with serious illnesses who are approaching the end of their lives undergo a journey where, along the way, they experience several critical points. Although we know these critical points are crucial to how they might access the best kind of care, we are unsure exactly when these points may occur and how they may vary for different kinds of people. We need to know when is the best time to start withdrawing invasive and purely curative treatments, when are discussions about approaching death ....People with serious illnesses who are approaching the end of their lives undergo a journey where, along the way, they experience several critical points. Although we know these critical points are crucial to how they might access the best kind of care, we are unsure exactly when these points may occur and how they may vary for different kinds of people. We need to know when is the best time to start withdrawing invasive and purely curative treatments, when are discussions about approaching death best introduced and how we can care for people from a diverse range of backgrounds and beliefs within our current health care system. We also need to identify and promote the best possible ways of supporting patients at the end of life and their families as they negotiate the often complex path towards a good death. With this kind of information, health care practitioners, particularly those involved in palliative care, can design better services that put in place pathways where assessment of patient and family needs, referral to the most appropriate services and coordination of all the aspects of care are easy to understand and access for all people. This kind of care can be expensive so we need to use the money allocated to palliative care wisely. This can be achieved with thoughtful research that identifies those most in need, at the time of most need and investigates the best approaches to alleviating pain in suffering in the weeks and months before death. A fair and equitable health care system is not just about keeping people healthy, but also about dealing humanely with the inevitability of deathRead moreRead less
Development And Implementation Of An Educational Program To Guide Palliative Care For People With Motor Neurone Disease
Funder
National Health and Medical Research Council
Funding Amount
$258,525.00
Summary
The project aims to improve the quality of care for people with MND and their family carers through the development, testing and implementation of an educational program for health professionals and other service providers focused on the palliative care needs of this population. The project is taking place in three sites: Western Australia, Victoria and South Australia, in collaboration with the MND associations in the three states. The effectiveness of the flexible model of care provided to peo ....The project aims to improve the quality of care for people with MND and their family carers through the development, testing and implementation of an educational program for health professionals and other service providers focused on the palliative care needs of this population. The project is taking place in three sites: Western Australia, Victoria and South Australia, in collaboration with the MND associations in the three states. The effectiveness of the flexible model of care provided to people with MND and their carers as a result of the implementation of the MND Education Program will be assessed and a national implementation plan will be developed.Read moreRead less
Examining A Core Assumption Of Policy And Services For Older Indigenous Australians
Funder
National Health and Medical Research Council
Funding Amount
$133,387.00
Summary
In aged care service planning, the age 50 years or over is used for the Indigenous Australian population in the same way as the age 70 years is used for the non-Indigenous population. This is based on the lower life expectancy of the Indigenous population which is presumed to result in a need for aged care services at younger ages. The underlying assumption is that Australia's Indigenous population aged over 50 has the same set of age-associated conditions and care needs as the non-Indigenous po ....In aged care service planning, the age 50 years or over is used for the Indigenous Australian population in the same way as the age 70 years is used for the non-Indigenous population. This is based on the lower life expectancy of the Indigenous population which is presumed to result in a need for aged care services at younger ages. The underlying assumption is that Australia's Indigenous population aged over 50 has the same set of age-associated conditions and care needs as the non-Indigenous population aged over 70. The evidence for this assumption is not established. It is well documented that the Indigenous population has worse health outcomes across all age groups relative to non-Indigenous Australians. However, our understanding of the details of the observed pattern is far from complete. This project seeks to compare the health status of the Indigenous population aged 50 years or over to the health status of the non-Indigenous population aged 70 years or over. The project will analyse a number of data sets to inform future directions in policy and service provision. A better understanding of these issues is fundamental to informed planning and allocation of resources, to identification of areas amenable to prevention strategies and to the development of approaches to care that meet the needs of Indigenous people.Read moreRead less