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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
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
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.
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