A large mole (melanocytic nevi) count is the strongest known risk factor for melanoma. An understanding of the factors governing naevus development may therefore lead to important insights into the etiology of melanoma. We shall carry out molecular genetic analysis of DNA samples collected from twins and their parents with the aim of identifying major genes affecting moliness, pigmentation and other risk factors for melanoma. The importance of this study is that it will significantly advance our ....A large mole (melanocytic nevi) count is the strongest known risk factor for melanoma. An understanding of the factors governing naevus development may therefore lead to important insights into the etiology of melanoma. We shall carry out molecular genetic analysis of DNA samples collected from twins and their parents with the aim of identifying major genes affecting moliness, pigmentation and other risk factors for melanoma. The importance of this study is that it will significantly advance our understanding of the relationship between moliness and melanoma risk and may lead to new therapeutic interventions.Read moreRead less
A large mole (melanocytic nevi) count is the strongest known risk factor for melanoma. An understanding of the factors governing naevus development may therefore lead to important insights into the etiology of melanoma. We shall carry out molecular genetic analysis of DNA samples collected from twins and their parents with the aim of identifying major genes affecting moliness, pigmentation and other risk factors for melanoma. The importance of this study is that it will significantly advance our ....A large mole (melanocytic nevi) count is the strongest known risk factor for melanoma. An understanding of the factors governing naevus development may therefore lead to important insights into the etiology of melanoma. We shall carry out molecular genetic analysis of DNA samples collected from twins and their parents with the aim of identifying major genes affecting moliness, pigmentation and other risk factors for melanoma. The importance of this study is that it will significantly advance our understanding of the relationship between moliness and melanoma risk and may lead to new preventative and therapeutic interventions.Read moreRead less
Genetic and environmental causes of asthma are poorly understood. The WATCH for asthma project will study Western Australian (WA) families in which there was a twin or higher order multiple birth (twin families) in order to measure inherited and environmental contributions to the development of asthma. All WA twin families, whose infants were born during 1990 to 1995, will be invited to become part of an existing Healthway funded, population based registry of WA Twin Child Health (the WATCH stud ....Genetic and environmental causes of asthma are poorly understood. The WATCH for asthma project will study Western Australian (WA) families in which there was a twin or higher order multiple birth (twin families) in order to measure inherited and environmental contributions to the development of asthma. All WA twin families, whose infants were born during 1990 to 1995, will be invited to become part of an existing Healthway funded, population based registry of WA Twin Child Health (the WATCH study). The WATCH study has already invited 2,751 WA twin families to participate and is the only population based twin study in Australia. Funding of this study by NH and MRC will enable the extension of this unique registry to include more specific clinical information about those families in which one or more of the twins has asthma. In addition to questionnaire data, DNA and physiological information will be collected, including a potentially important new measure of airway inflammation, exhaled nitric oxide which has yet to be studied for familial aggregation. We will use the extended WATCH dataset to undertake a comprehensive investigation of the genetic epidemiology of childhood asthma. This work offers the potential to advance our current understanding of the causes of both childhood asthma and associated traits (e.g., 'twitchy' airways). By exploring the relationships between different components of asthma, we will generate information to assist us to design better epidemiological and genetic studies of asthma. At the time of recruitment, if consent is given, blood will also be taken for DNA extraction and frozen storage. This will generate a powerful data base that can later be used for to search at a molecular level for genes potentially important in causing childhood asthma. Finally, by extending the WATCH study database we will be enhancing a research resource that could potentially be used for future studies of common complex diseases other than asthma.Read moreRead less
Morphological And Spectroscopic Study Of Monozygotic Twins Discordant For Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$139,079.00
Summary
Understanding the causes of epilepsies is essential for treatment and prevention. In many people with epilepsy the cause is not obvious and is frequently attributed to events at birth or minor head injuries. It is clear that these factors are generally not important. There is increasing evidence that subtle changes in brain structure, reflecting developmental or maturational abnormalities, may be the cause of these epilepsies. Such subtle changes can be detected by novel magnetic resonance imagi ....Understanding the causes of epilepsies is essential for treatment and prevention. In many people with epilepsy the cause is not obvious and is frequently attributed to events at birth or minor head injuries. It is clear that these factors are generally not important. There is increasing evidence that subtle changes in brain structure, reflecting developmental or maturational abnormalities, may be the cause of these epilepsies. Such subtle changes can be detected by novel magnetic resonance imaging strategies. However, due to individual differences of brain morphology, the significance of such subtle changes can be disputed. Monozygotic twins have an increased similarity of their brain morphology. Therefore, analysis of monozygotic twins where only one twin is affected with epilepy, is a powerful way to characterize significant brain abnormalities. This will provide novel information on the causes of epilepsy relevant to the general population.Read moreRead less
Investigating The Role Of Pigmentation Pathway Genes In Moliness And Melanoma Risk
Funder
National Health and Medical Research Council
Funding Amount
$943,545.00
Summary
Melanoma is an important cause of death in Australia and our generally light pigmentation in a geographical area of high sun exposure is a major factor in this. Our research increasingly points to certain pigmentation genes having a direct biochemical influence on cancer risk in addition to their risk via pigmentation. Understanding how the genes that deternine skin, hair and eye colour act to modify moliness and melanoma risk is important for public health prevention schemes.
Teeth And Faces Of Australian Twins: A Longitudinal Study
Funder
National Health and Medical Research Council
Funding Amount
$647,226.00
Summary
We are seeking support from the NHMRC to complete a longitudinal study of 250 pairs of twins, both identical and non-identical, whom we have examined at around 4-6 years of age when all the baby teeth were present in the mouth, then again at around 8-10 years of age when both primary and permanent teeth were present. We now plan to examine these twins again at around the age of 11-13 years when all the permanent teeth, except the wisdom teeth, are normally present. Records to be obtained from th ....We are seeking support from the NHMRC to complete a longitudinal study of 250 pairs of twins, both identical and non-identical, whom we have examined at around 4-6 years of age when all the baby teeth were present in the mouth, then again at around 8-10 years of age when both primary and permanent teeth were present. We now plan to examine these twins again at around the age of 11-13 years when all the permanent teeth, except the wisdom teeth, are normally present. Records to be obtained from the twins over the next three years will include dental examinations, dental impressions from which casts can be made, shed primary teeth, and intra- and extra-oral photographs. We will apply modern methods of genetic analysis to determine the importance of genetic and environmental influences on observed variation in several dental and facial features. We will also study the fascinating phenomenon of mirror imaging in twins, where one twin mirrors the other for one or more features. Longitudinal studies of twins, in which a large sample of children is studied over several years, provide a powerful means of determining how genes influence growth and development. As far as we are aware, ours is the only large-scale longitudinal study of dental and facial growth in twins being undertaken in the world at present. Once we have collected all the data and carried out analyses, we will gain a much better understanding of the factors that can influence development of the teeth and face, and be in a much better position to be able to predict those children who are most likely to develop malocclusions in later life.Read moreRead less